Canonical Allele Identifier: CA343993230

Gene: F13B

Linked Data

• MyVariant Identifiers: chr1:g.197008510A>C (hg19) ; chr1:g.197039380A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039380A>C , CM000663.2:g.197039380A>C	GRCh38
NC_000001.10:g.197008510A>C , CM000663.1:g.197008510A>C	GRCh37
NC_000001.9:g.195275133A>C	NCBI36
NG_012065.1:g.32888T>G , LRG_550:g.32888T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367412.2:c.1984T>G MANE Select	ENSP00000356382.2:p.Ter662Glu
ENST00000649282.1:c.739T>G	ENSP00000497116.1:p.Ter247Glu
ENST00000367412.1:c.1984T>G	ENSP00000356382.1:p.Ter662Glu
NM_001994.2:c.1984T>G , LRG_550t1:c.1984T>G	NP_001985.2:p.Ter662Glu
XM_011509283.2:c.*919T>G	XP_011507585.1:n.*919T>G
XM_011509284.2:c.*919T>G	XP_011507586.1:n.*919T>G
XM_011509286.2:c.*919T>G	XP_011507588.1:n.*919T>G
NM_001994.3:c.1984T>G MANE Select	NP_001985.2:p.Ter662Glu