Canonical Allele Identifier: CA3624357

Gene: F13A1

Linked Data

• ClinVar Variation Id: 3038012
• ClinVar RCV Id: RCV003919511
• dbSNP Id: rs3024438
• ExAC: 6:6182261 A / G
• gnomAD v2: 6-6182261-A-G
• gnomAD v3: 6-6182028-A-G
• gnomAD v4: 6-6182028-A-G
• MyVariant Identifiers: chr6:g.6182261A>G (hg19) ; chr6:g.6182028A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6182028A>G , CM000668.2:g.6182028A>G	GRCh38
NC_000006.11:g.6182261A>G , CM000668.1:g.6182261A>G	GRCh37
NC_000006.10:g.6127260A>G	NCBI36
NG_008107.1:g.143664T>C , LRG_549:g.143664T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264870.8:c.1419T>C MANE Select	ENSP00000264870.3:p.Asp473=
ENST00000264870.7:c.1419T>C	ENSP00000264870.3:p.Asp473=
NM_000129.3:c.1419T>C , LRG_549t1:c.1419T>C	NP_000120.2:p.Asp473=
XM_006715010.2:c.1419T>C	XP_006715073.1:p.Asp473=
XM_011514342.1:c.1581T>C	XP_011512644.1:p.Asp527=
NM_000129.4:c.1419T>C MANE Select	NP_000120.2:p.Asp473=