Canonical Allele Identifier: CA343993304

Gene: F13B

Linked Data

• MyVariant Identifiers: chr1:g.197008533G>C (hg19) ; chr1:g.197039403G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039403G>C , CM000663.2:g.197039403G>C	GRCh38
NC_000001.10:g.197008533G>C , CM000663.1:g.197008533G>C	GRCh37
NC_000001.9:g.195275156G>C	NCBI36
NG_012065.1:g.32865C>G , LRG_550:g.32865C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1961C>G MANE Select	ENSP00000356382.2:p.Ser654Cys
ENST00000649282.1:c.716C>G	ENSP00000497116.1:p.Ser239Cys
ENST00000367412.1:c.1961C>G	ENSP00000356382.1:p.Ser654Cys
NM_001994.2:c.1961C>G , LRG_550t1:c.1961C>G	NP_001985.2:p.Ser654Cys
XM_011509283.2:c.*896C>G	XP_011507585.1:n.*896C>G
XM_011509284.2:c.*896C>G	XP_011507586.1:n.*896C>G
XM_011509286.2:c.*896C>G	XP_011507588.1:n.*896C>G
NM_001994.3:c.1961C>G MANE Select	NP_001985.2:p.Ser654Cys