Canonical Allele Identifier: CA343993331

Gene: F13B

Linked Data

• gnomAD v4: 1-197039411-G-T
• MyVariant Identifiers: chr1:g.197008541G>T (hg19) ; chr1:g.197039411G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039411G>T , CM000663.2:g.197039411G>T	GRCh38
NC_000001.10:g.197008541G>T , CM000663.1:g.197008541G>T	GRCh37
NC_000001.9:g.195275164G>T	NCBI36
NG_012065.1:g.32857C>A , LRG_550:g.32857C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1953C>A MANE Select	ENSP00000356382.2:p.Ser651Arg
ENST00000649282.1:c.708C>A	ENSP00000497116.1:p.Ser236Arg
ENST00000367412.1:c.1953C>A	ENSP00000356382.1:p.Ser651Arg
NM_001994.2:c.1953C>A , LRG_550t1:c.1953C>A	NP_001985.2:p.Ser651Arg
XM_011509283.2:c.*888C>A	XP_011507585.1:n.*888C>A
XM_011509284.2:c.*888C>A	XP_011507586.1:n.*888C>A
XM_011509286.2:c.*888C>A	XP_011507588.1:n.*888C>A
NM_001994.3:c.1953C>A MANE Select	NP_001985.2:p.Ser651Arg