Canonical Allele Identifier: CA344000930

Gene: F13B

Linked Data

• MyVariant Identifiers: chr1:g.197024862G>C (hg19) ; chr1:g.197055732G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197055732G>C , CM000663.2:g.197055732G>C	GRCh38
NC_000001.10:g.197024862G>C , CM000663.1:g.197024862G>C	GRCh37
NC_000001.9:g.195291485G>C	NCBI36
NG_012065.1:g.16536C>G , LRG_550:g.16536C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1337C>G MANE Select	ENSP00000356382.2:p.Ser446Cys
ENST00000649282.1:c.92C>G	ENSP00000497116.1:p.Ser31Cys
ENST00000367412.1:c.1337C>G	ENSP00000356382.1:p.Ser446Cys
NM_001994.2:c.1337C>G , LRG_550t1:c.1337C>G	NP_001985.2:p.Ser446Cys
XM_011509283.1:c.1337C>G	XP_011507585.1:p.Ser446Cys
XM_011509284.1:c.1334C>G	XP_011507586.1:p.Ser445Cys
XM_011509285.1:c.1241C>G	XP_011507587.1:p.Ser414Cys
XM_011509286.1:c.1193C>G	XP_011507588.1:p.Ser398Cys
XM_011509283.2:c.1337C>G	XP_011507585.1:p.Ser446Cys
XM_011509284.2:c.1334C>G	XP_011507586.1:p.Ser445Cys
XM_011509286.2:c.1193C>G	XP_011507588.1:p.Ser398Cys
NM_001994.3:c.1337C>G MANE Select	NP_001985.2:p.Ser446Cys