Canonical Allele Identifier: CA343993307

Gene: F13B

Linked Data

• gnomAD v4: 1-197039404-A-G
• MyVariant Identifiers: chr1:g.197008534A>G (hg19) ; chr1:g.197039404A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039404A>G , CM000663.2:g.197039404A>G	GRCh38
NC_000001.10:g.197008534A>G , CM000663.1:g.197008534A>G	GRCh37
NC_000001.9:g.195275157A>G	NCBI36
NG_012065.1:g.32864T>C , LRG_550:g.32864T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1960T>C MANE Select	ENSP00000356382.2:p.Ser654Pro
ENST00000649282.1:c.715T>C	ENSP00000497116.1:p.Ser239Pro
ENST00000367412.1:c.1960T>C	ENSP00000356382.1:p.Ser654Pro
NM_001994.2:c.1960T>C , LRG_550t1:c.1960T>C	NP_001985.2:p.Ser654Pro
XM_011509283.2:c.*895T>C	XP_011507585.1:n.*895T>C
XM_011509284.2:c.*895T>C	XP_011507586.1:n.*895T>C
XM_011509286.2:c.*895T>C	XP_011507588.1:n.*895T>C
NM_001994.3:c.1960T>C MANE Select	NP_001985.2:p.Ser654Pro