Canonical Allele Identifier: CA344000919

Gene: F13B

Linked Data

• MyVariant Identifiers: chr1:g.197024859G>T (hg19) ; chr1:g.197055729G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197055729G>T , CM000663.2:g.197055729G>T	GRCh38
NC_000001.10:g.197024859G>T , CM000663.1:g.197024859G>T	GRCh37
NC_000001.9:g.195291482G>T	NCBI36
NG_012065.1:g.16539C>A , LRG_550:g.16539C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1340C>A MANE Select	ENSP00000356382.2:p.Pro447Gln
ENST00000649282.1:c.95C>A	ENSP00000497116.1:p.Pro32Gln
ENST00000367412.1:c.1340C>A	ENSP00000356382.1:p.Pro447Gln
NM_001994.2:c.1340C>A , LRG_550t1:c.1340C>A	NP_001985.2:p.Pro447Gln
XM_011509283.1:c.1340C>A	XP_011507585.1:p.Pro447Gln
XM_011509284.1:c.1337C>A	XP_011507586.1:p.Pro446Gln
XM_011509285.1:c.1244C>A	XP_011507587.1:p.Pro415Gln
XM_011509286.1:c.1196C>A	XP_011507588.1:p.Pro399Gln
XM_011509283.2:c.1340C>A	XP_011507585.1:p.Pro447Gln
XM_011509284.2:c.1337C>A	XP_011507586.1:p.Pro446Gln
XM_011509286.2:c.1196C>A	XP_011507588.1:p.Pro399Gln
NM_001994.3:c.1340C>A MANE Select	NP_001985.2:p.Pro447Gln