Linked Data
ClinVar Variation Id:
522865
ClinVar RCV Id:
RCV000626047
dbSNP Id:
rs1555735545
gnomAD v4:
19-46746071-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46746071G>A , CM000681.2:g.46746071G>A | GRCh38 |
| NC_000019.9:g.47249328G>A , CM000681.1:g.47249328G>A | GRCh37 |
| NC_000019.8:g.51941168G>A | NCBI36 |
| NG_008898.2:g.5026G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263280.11:c.282+78C>T (STRN4) MANE Select | ENSP00000263280.4:n.282+78C>T | |
| ENST00000318584.10:c.-272G>A (FKRP) MANE Select | ENSP00000326570.4:n.-272G>A | |
| ENST00000263280.10:c.282+78C>T (STRN4) | ENSP00000263280.4:n.282+78C>T | |
| ENST00000318584.9:c.-272G>A (FKRP) | ENSP00000326570.4:n.-272G>A | |
| ENST00000391909.7:c.-324G>A (FKRP) | ENSP00000375776.2:n.-324G>A | |
| ENST00000391910.7:c.282+78C>T (STRN4) | ENSP00000375777.1:n.282+78C>T | |
| ENST00000435164.6:c.-198+693C>T (STRN4) | ENSP00000473607.1:n.-198+693C>T | |
| ENST00000539396.5:c.-76+78C>T (STRN4) | ENSP00000440901.1:n.-76+78C>T | |
| ENST00000593800.5:c.-275G>A (FKRP) | ENSP00000471209.1:n.-275G>A | |
| ENST00000593875.5:c.-320G>A (FKRP) | ENSP00000470297.1:n.-320G>A | |
| ENST00000593979.6:c.-76+693C>T (STRN4) | ENSP00000471354.2:n.-76+693C>T | |
| ENST00000593995.5:n.15G>A (FKRP) | ||
| ENST00000594467.5:c.-427G>A (FKRP) | ENSP00000471971.1:n.-427G>A | |
| ENST00000594704.5:c.257+78C>T (STRN4) | ||
| ENST00000595570.5:c.-382G>A (FKRP) | ENSP00000470929.1:n.-382G>A | |
| ENST00000595868.5:c.-333G>A (FKRP) | ENSP00000471573.1:n.-333G>A | |
| ENST00000596012.2:c.-198+731C>T (STRN4) | ENSP00000469279.1:n.-198+731C>T | |
| ENST00000596460.5:c.-352G>A (FKRP) | ENSP00000469373.1:n.-352G>A | |
| ENST00000596974.5:n.26G>A (FKRP) | ||
| ENST00000597313.5:c.-391G>A (FKRP) | ENSP00000472370.1:n.-391G>A | |
| ENST00000597339.5:n.14G>A (FKRP) | ||
| ENST00000597403.5:n.11G>A (FKRP) | ||
| ENST00000598271.5:c.-491G>A (FKRP) | ENSP00000471088.1:n.-491G>A | |
| ENST00000600005.5:c.-193G>A (FKRP) | ENSP00000470335.1:n.-193G>A | |
| ENST00000600227.5:c.-228G>A (FKRP) | ENSP00000468825.1:n.-228G>A | |
| ENST00000600629.5:c.-344G>A (FKRP) | ENSP00000470096.1:n.-344G>A | |
| ENST00000600646.5:n.15G>A (FKRP) | ||
| ENST00000600681.5:n.14G>A (FKRP) | ||
| ENST00000600710.1:n.244+78C>T (STRN4) | ||
| ENST00000600872.5:n.14G>A (FKRP) | ||
| ENST00000600977.5:n.15G>A (FKRP) | ||
| ENST00000601299.5:c.-121G>A (FKRP) | ENSP00000470103.1:n.-121G>A | |
| ENST00000602181.5:c.-182G>A (FKRP) | ENSP00000472981.1:n.-182G>A | |
| ENST00000602250.5:c.-396G>A (FKRP) | ENSP00000472807.1:n.-396G>A | |
| NM_001039877.1:c.282+78C>T (STRN4) | NP_001034966.1:n.282+78C>T | |
| NM_001039885.2:c.-324G>A (FKRP) | NP_001034974.1:n.-324G>A | |
| NM_013403.2:c.282+78C>T (STRN4) | NP_037535.2:n.282+78C>T | |
| NM_024301.4:c.-272G>A (FKRP) | NP_077277.1:n.-272G>A | |
| XM_005259247.1:c.-396G>A (FKRP) | XP_005259304.1:n.-396G>A | |
| XM_005259248.1:c.-344G>A (FKRP) | XP_005259305.1:n.-344G>A | |
| XM_005259249.3:c.-333G>A (FKRP) | XP_005259306.1:n.-333G>A | |
| XM_005259250.3:c.-382G>A (FKRP) | XP_005259307.1:n.-382G>A | |
| XM_006723171.2:c.282+78C>T (STRN4) | XP_006723234.1:n.282+78C>T | |
| XM_006723172.2:c.282+78C>T (STRN4) | XP_006723235.1:n.282+78C>T | |
| XM_011526878.1:c.282+78C>T (STRN4) | XP_011525180.1:n.282+78C>T | |
| XM_011527304.1:c.-253+1287G>A (FKRP) | XP_011525606.1:n.-253+1287G>A | |
| XM_011527306.1:c.-121G>A (FKRP) | XP_011525608.1:n.-121G>A | |
| XM_011527307.1:c.-182G>A (FKRP) | XP_011525609.1:n.-182G>A | |
| XM_005259247.2:c.-396G>A (FKRP) | XP_005259304.1:n.-396G>A | |
| XM_005259248.2:c.-344G>A (FKRP) | XP_005259305.1:n.-344G>A | |
| XM_005259249.4:c.-333G>A (FKRP) | XP_005259306.1:n.-333G>A | |
| XM_011527306.2:c.-121G>A (FKRP) | XP_011525608.1:n.-121G>A | |
| XM_017026719.1:c.282+78C>T (STRN4) | XP_016882208.1:n.282+78C>T | |
| XM_017027297.2:c.-491G>A (FKRP) | XP_016882786.1:n.-491G>A | |
| XM_024451476.1:c.-358+78C>T (STRN4) | XP_024307244.1:n.-358+78C>T | |
| XM_024451707.1:c.-193G>A (FKRP) | XP_024307475.1:n.-193G>A | |
| NM_013403.3:c.282+78C>T (STRN4) MANE Select | NP_037535.2:n.282+78C>T | |
| NM_001039877.2:c.282+78C>T (STRN4) | NP_001034966.1:n.282+78C>T | |
| NM_001039885.3:c.-324G>A (FKRP) | NP_001034974.1:n.-324G>A | |
| NM_024301.5:c.-272G>A (FKRP) MANE Select | NP_077277.1:n.-272G>A |