Canonical Allele Identifier: CA344000907

Gene: F13B

Linked Data

• MyVariant Identifiers: chr1:g.197024856G>T (hg19) ; chr1:g.197055726G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197055726G>T , CM000663.2:g.197055726G>T	GRCh38
NC_000001.10:g.197024856G>T , CM000663.1:g.197024856G>T	GRCh37
NC_000001.9:g.195291479G>T	NCBI36
NG_012065.1:g.16542C>A , LRG_550:g.16542C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1343C>A MANE Select	ENSP00000356382.2:p.Pro448His
ENST00000649282.1:c.98C>A	ENSP00000497116.1:p.Pro33His
ENST00000367412.1:c.1343C>A	ENSP00000356382.1:p.Pro448His
NM_001994.2:c.1343C>A , LRG_550t1:c.1343C>A	NP_001985.2:p.Pro448His
XM_011509283.1:c.1343C>A	XP_011507585.1:p.Pro448His
XM_011509284.1:c.1340C>A	XP_011507586.1:p.Pro447His
XM_011509285.1:c.1247C>A	XP_011507587.1:p.Pro416His
XM_011509286.1:c.1199C>A	XP_011507588.1:p.Pro400His
XM_011509283.2:c.1343C>A	XP_011507585.1:p.Pro448His
XM_011509284.2:c.1340C>A	XP_011507586.1:p.Pro447His
XM_011509286.2:c.1199C>A	XP_011507588.1:p.Pro400His
NM_001994.3:c.1343C>A MANE Select	NP_001985.2:p.Pro448His