Linked Data
ClinVar Variation Id:
390494
ClinVar RCV Id:
RCV000435408
dbSNP Id:
rs755990039
ExAC:
19:47249361 G / A
gnomAD v2:
19-47249361-G-A
gnomAD v3:
19-46746104-G-A
gnomAD v4:
19-46746104-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46746104G>A , CM000681.2:g.46746104G>A | GRCh38 |
| NC_000019.9:g.47249361G>A , CM000681.1:g.47249361G>A | GRCh37 |
| NC_000019.8:g.51941201G>A | NCBI36 |
| NG_008898.2:g.5059G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263280.11:c.282+45C>T (STRN4) MANE Select | ENSP00000263280.4:n.282+45C>T | |
| ENST00000318584.10:c.-253+14G>A (FKRP) MANE Select | ENSP00000326570.4:n.-253+14G>A | |
| ENST00000263280.10:c.282+45C>T (STRN4) | ENSP00000263280.4:n.282+45C>T | |
| ENST00000318584.9:c.-253+14G>A (FKRP) | ENSP00000326570.4:n.-253+14G>A | |
| ENST00000391909.7:c.-305+14G>A (FKRP) | ENSP00000375776.2:n.-305+14G>A | |
| ENST00000391910.7:c.282+45C>T (STRN4) | ENSP00000375777.1:n.282+45C>T | |
| ENST00000435164.6:c.-198+660C>T (STRN4) | ENSP00000473607.1:n.-198+660C>T | |
| ENST00000539396.5:c.-76+45C>T (STRN4) | ENSP00000440901.1:n.-76+45C>T | |
| ENST00000593800.5:c.-256+14G>A (FKRP) | ENSP00000471209.1:n.-256+14G>A | |
| ENST00000593875.5:c.-305+18G>A (FKRP) | ENSP00000470297.1:n.-305+18G>A | |
| ENST00000593979.6:c.-76+660C>T (STRN4) | ENSP00000471354.2:n.-76+660C>T | |
| ENST00000593995.5:n.34+14G>A (FKRP) | ||
| ENST00000594467.5:c.-408+14G>A (FKRP) | ENSP00000471971.1:n.-408+14G>A | |
| ENST00000594704.5:c.257+45C>T (STRN4) | ||
| ENST00000595570.5:c.-363+14G>A (FKRP) | ENSP00000470929.1:n.-363+14G>A | |
| ENST00000595868.5:c.-314+14G>A (FKRP) | ENSP00000471573.1:n.-314+14G>A | |
| ENST00000596012.2:c.-198+698C>T (STRN4) | ENSP00000469279.1:n.-198+698C>T | |
| ENST00000596460.5:c.-333+14G>A (FKRP) | ENSP00000469373.1:n.-333+14G>A | |
| ENST00000596974.5:n.45+14G>A (FKRP) | ||
| ENST00000597313.5:c.-372+14G>A (FKRP) | ENSP00000472370.1:n.-372+14G>A | |
| ENST00000597339.5:n.33+14G>A (FKRP) | ||
| ENST00000597403.5:n.30+14G>A (FKRP) | ||
| ENST00000598271.5:c.-472+14G>A (FKRP) | ENSP00000471088.1:n.-472+14G>A | |
| ENST00000600005.5:c.-174+14G>A (FKRP) | ENSP00000470335.1:n.-174+14G>A | |
| ENST00000600227.5:c.-209+14G>A (FKRP) | ENSP00000468825.1:n.-209+14G>A | |
| ENST00000600629.5:c.-325+14G>A (FKRP) | ENSP00000470096.1:n.-325+14G>A | |
| ENST00000600646.5:n.34+14G>A (FKRP) | ||
| ENST00000600681.5:n.33+14G>A (FKRP) | ||
| ENST00000600710.1:n.244+45C>T (STRN4) | ||
| ENST00000600872.5:n.33+14G>A (FKRP) | ||
| ENST00000600977.5:n.34+14G>A (FKRP) | ||
| ENST00000601299.5:c.-102+14G>A (FKRP) | ENSP00000470103.1:n.-102+14G>A | |
| ENST00000602181.5:c.-163+14G>A (FKRP) | ENSP00000472981.1:n.-163+14G>A | |
| ENST00000602250.5:c.-377+14G>A (FKRP) | ENSP00000472807.1:n.-377+14G>A | |
| NM_001039877.1:c.282+45C>T (STRN4) | NP_001034966.1:n.282+45C>T | |
| NM_001039885.2:c.-305+14G>A (FKRP) | NP_001034974.1:n.-305+14G>A | |
| NM_013403.2:c.282+45C>T (STRN4) | NP_037535.2:n.282+45C>T | |
| NM_024301.4:c.-253+14G>A (FKRP) | NP_077277.1:n.-253+14G>A | |
| XM_005259247.1:c.-377+14G>A (FKRP) | XP_005259304.1:n.-377+14G>A | |
| XM_005259248.1:c.-325+14G>A (FKRP) | XP_005259305.1:n.-325+14G>A | |
| XM_005259249.3:c.-314+14G>A (FKRP) | XP_005259306.1:n.-314+14G>A | |
| XM_005259250.3:c.-363+14G>A (FKRP) | XP_005259307.1:n.-363+14G>A | |
| XM_006723171.2:c.282+45C>T (STRN4) | XP_006723234.1:n.282+45C>T | |
| XM_006723172.2:c.282+45C>T (STRN4) | XP_006723235.1:n.282+45C>T | |
| XM_011526878.1:c.282+45C>T (STRN4) | XP_011525180.1:n.282+45C>T | |
| XM_011527304.1:c.-253+1320G>A (FKRP) | XP_011525606.1:n.-253+1320G>A | |
| XM_011527306.1:c.-102+14G>A (FKRP) | XP_011525608.1:n.-102+14G>A | |
| XM_011527307.1:c.-163+14G>A (FKRP) | XP_011525609.1:n.-163+14G>A | |
| XM_005259247.2:c.-377+14G>A (FKRP) | XP_005259304.1:n.-377+14G>A | |
| XM_005259248.2:c.-325+14G>A (FKRP) | XP_005259305.1:n.-325+14G>A | |
| XM_005259249.4:c.-314+14G>A (FKRP) | XP_005259306.1:n.-314+14G>A | |
| XM_011527306.2:c.-102+14G>A (FKRP) | XP_011525608.1:n.-102+14G>A | |
| XM_017026719.1:c.282+45C>T (STRN4) | XP_016882208.1:n.282+45C>T | |
| XM_017027297.2:c.-472+14G>A (FKRP) | XP_016882786.1:n.-472+14G>A | |
| XM_024451476.1:c.-358+45C>T (STRN4) | XP_024307244.1:n.-358+45C>T | |
| XM_024451707.1:c.-174+14G>A (FKRP) | XP_024307475.1:n.-174+14G>A | |
| NM_013403.3:c.282+45C>T (STRN4) MANE Select | NP_037535.2:n.282+45C>T | |
| NM_001039877.2:c.282+45C>T (STRN4) | NP_001034966.1:n.282+45C>T | |
| NM_001039885.3:c.-305+14G>A (FKRP) | NP_001034974.1:n.-305+14G>A | |
| NM_024301.5:c.-253+14G>A (FKRP) MANE Select | NP_077277.1:n.-253+14G>A |