Canonical Allele Identifier: CA344000884

Gene: F13B

Linked Data

• MyVariant Identifiers: chr1:g.197024851A>G (hg19) ; chr1:g.197055721A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197055721A>G , CM000663.2:g.197055721A>G	GRCh38
NC_000001.10:g.197024851A>G , CM000663.1:g.197024851A>G	GRCh37
NC_000001.9:g.195291474A>G	NCBI36
NG_012065.1:g.16547T>C , LRG_550:g.16547T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1348T>C MANE Select	ENSP00000356382.2:p.Cys450Arg
ENST00000649282.1:c.103T>C	ENSP00000497116.1:p.Cys35Arg
ENST00000367412.1:c.1348T>C	ENSP00000356382.1:p.Cys450Arg
NM_001994.2:c.1348T>C , LRG_550t1:c.1348T>C	NP_001985.2:p.Cys450Arg
XM_011509283.1:c.1348T>C	XP_011507585.1:p.Cys450Arg
XM_011509284.1:c.1345T>C	XP_011507586.1:p.Cys449Arg
XM_011509285.1:c.1252T>C	XP_011507587.1:p.Cys418Arg
XM_011509286.1:c.1204T>C	XP_011507588.1:p.Cys402Arg
XM_011509283.2:c.1348T>C	XP_011507585.1:p.Cys450Arg
XM_011509284.2:c.1345T>C	XP_011507586.1:p.Cys449Arg
XM_011509286.2:c.1204T>C	XP_011507588.1:p.Cys402Arg
NM_001994.3:c.1348T>C MANE Select	NP_001985.2:p.Cys450Arg