Canonical Allele Identifier: CA343993248

Gene: F13B

Linked Data

• dbSNP Id: rs149959295
• gnomAD v3: 1-197039385-C-T
• gnomAD v4: 1-197039385-C-T
• MyVariant Identifiers: chr1:g.197008515C>T (hg19) ; chr1:g.197039385C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039385C>T , CM000663.2:g.197039385C>T	GRCh38
NC_000001.10:g.197008515C>T , CM000663.1:g.197008515C>T	GRCh37
NC_000001.9:g.195275138C>T	NCBI36
NG_012065.1:g.32883G>A , LRG_550:g.32883G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367412.2:c.1979G>A MANE Select	ENSP00000356382.2:p.Arg660Lys
ENST00000649282.1:c.734G>A	ENSP00000497116.1:p.Arg245Lys
ENST00000367412.1:c.1979G>A	ENSP00000356382.1:p.Arg660Lys
NM_001994.2:c.1979G>A , LRG_550t1:c.1979G>A	NP_001985.2:p.Arg660Lys
XM_011509283.2:c.*914G>A	XP_011507585.1:n.*914G>A
XM_011509284.2:c.*914G>A	XP_011507586.1:n.*914G>A
XM_011509286.2:c.*914G>A	XP_011507588.1:n.*914G>A
NM_001994.3:c.1979G>A MANE Select	NP_001985.2:p.Arg660Lys