Canonical Allele Identifier: CA343993251

Gene: F13B

Linked Data

• MyVariant Identifiers: chr1:g.197008516T>C (hg19) ; chr1:g.197039386T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039386T>C , CM000663.2:g.197039386T>C	GRCh38
NC_000001.10:g.197008516T>C , CM000663.1:g.197008516T>C	GRCh37
NC_000001.9:g.195275139T>C	NCBI36
NG_012065.1:g.32882A>G , LRG_550:g.32882A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367412.2:c.1978A>G MANE Select	ENSP00000356382.2:p.Arg660Gly
ENST00000649282.1:c.733A>G	ENSP00000497116.1:p.Arg245Gly
ENST00000367412.1:c.1978A>G	ENSP00000356382.1:p.Arg660Gly
NM_001994.2:c.1978A>G , LRG_550t1:c.1978A>G	NP_001985.2:p.Arg660Gly
XM_011509283.2:c.*913A>G	XP_011507585.1:n.*913A>G
XM_011509284.2:c.*913A>G	XP_011507586.1:n.*913A>G
XM_011509286.2:c.*913A>G	XP_011507588.1:n.*913A>G
NM_001994.3:c.1978A>G MANE Select	NP_001985.2:p.Arg660Gly