Linked Data
gnomAD v3:
4-186287793-C-A
gnomAD v4:
4-186287793-C-A
MyVariant Identifiers:
chr4:g.187208947C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186287793C>A , CM000666.2:g.186287793C>A | GRCh38 |
| NC_000004.11:g.187208947C>A , CM000666.1:g.187208947C>A | GRCh37 |
| NC_000004.10:g.187445941C>A | NCBI36 |
| NG_008051.1:g.26830C>A , LRG_583:g.26830C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1686C>A (F11) MANE Select | ENSP00000384957.2:p.Gly562= | |
| ENST00000264691.4:c.286C>A (F11) | ||
| ENST00000264692.8:c.1524C>A (F11) | ENSP00000264692.5:p.Gly508= | |
| ENST00000403665.6:c.1686C>A (F11) | ENSP00000384957.2:p.Gly562= | |
| ENST00000503841.1:n.205C>A (F11) | ||
| NM_000128.3:c.1686C>A , LRG_583t1:c.1686C>A (F11) | NP_000119.1:p.Gly562= | |
| NR_033900.1:n.1066+635G>T (F11-AS1) | ||
| XM_005262821.2:c.1689C>A (F11) | XP_005262878.1:p.Gly563= | |
| XM_005262822.2:c.1593C>A (F11) | XP_005262879.1:p.Gly531= | |
| XM_005262823.2:c.1419C>A (F11) | XP_005262880.1:p.Gly473= | |
| XM_006714137.1:c.1641C>A (F11) | XP_006714200.1:p.Gly547= | |
| XM_005262821.4:c.1689C>A (F11) | XP_005262878.1:p.Gly563= | |
| XM_005262822.4:c.1593C>A (F11) | XP_005262879.1:p.Gly531= | |
| XM_005262823.4:c.1419C>A (F11) | XP_005262880.1:p.Gly473= | |
| XM_006714137.3:c.1641C>A (F11) | XP_006714200.1:p.Gly547= | |
| NM_000128.4:c.1686C>A (F11) MANE Select | NP_000119.1:p.Gly562= |