Canonical Allele Identifier: CA3624518
Gene: F13A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 357674
ClinVar RCV Id: RCV000277737
dbSNP Id: rs199564311
gnomAD v2: 6-6225003-C-T
gnomAD v3: 6-6224770-C-T
gnomAD v4: 6-6224770-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224770C>T , CM000668.2:g.6224770C>T GRCh38
NC_000006.11:g.6225003C>T , CM000668.1:g.6225003C>T GRCh37
NC_000006.10:g.6170002C>T NCBI36
NG_008107.1:g.100922G>A , LRG_549:g.100922G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.889G>A MANE Select ENSP00000264870.3:p.Val297Ile
ENST00000264870.7:c.889G>A ENSP00000264870.3:p.Val297Ile
ENST00000445223.1:c.39G>A
NM_000129.3:c.889G>A , LRG_549t1:c.889G>A NP_000120.2:p.Val297Ile
XM_006715010.2:c.889G>A XP_006715073.1:p.Val297Ile
XM_011514342.1:c.1051G>A XP_011512644.1:p.Val351Ile
NM_000129.4:c.889G>A MANE Select NP_000120.2:p.Val297Ile