Canonical Allele Identifier: CA126642
Gene: F13A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16534
ClinVar RCV Id: RCV000017999
dbSNP Id: rs121913073
gnomAD v2: 6-6224943-C-A
gnomAD v3: 6-6224710-C-A
gnomAD v4: 6-6224710-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224710C>A , CM000668.2:g.6224710C>A GRCh38
NC_000006.11:g.6224943C>A , CM000668.1:g.6224943C>A GRCh37
NC_000006.10:g.6169942C>A NCBI36
NG_008107.1:g.100982G>T , LRG_549:g.100982G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.949G>T MANE Select ENSP00000264870.3:p.Val317Phe
ENST00000264870.7:c.949G>T ENSP00000264870.3:p.Val317Phe
ENST00000445223.1:c.99G>T
NM_000129.3:c.949G>T , LRG_549t1:c.949G>T NP_000120.2:p.Val317Phe
XM_006715010.2:c.949G>T XP_006715073.1:p.Val317Phe
XM_011514342.1:c.1111G>T XP_011512644.1:p.Val371Phe
NM_000129.4:c.949G>T MANE Select NP_000120.2:p.Val317Phe