Canonical Allele Identifier: CA35869332

Gene: F13B

Linked Data

• dbSNP Id: rs939503483
• gnomAD v3: 1-197039316-T-A
• gnomAD v4: 1-197039316-T-A
• MyVariant Identifiers: chr1:g.197008446T>A (hg19) ; chr1:g.197039316T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039316T>A , CM000663.2:g.197039316T>A	GRCh38
NC_000001.10:g.197008446T>A , CM000663.1:g.197008446T>A	GRCh37
NC_000001.9:g.195275069T>A	NCBI36
NG_012065.1:g.32952A>T , LRG_550:g.32952A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.*62A>T MANE Select	ENSP00000356382.2:n.*62A>T
ENST00000649282.1:c.803A>T	ENSP00000497116.1:n.803A>T
ENST00000367412.1:c.*62A>T	ENSP00000356382.1:n.*62A>T
NM_001994.2:c.*62A>T , LRG_550t1:c.*62A>T	NP_001985.2:n.*62A>T
XM_011509283.2:c.*983A>T	XP_011507585.1:n.*983A>T
XM_011509284.2:c.*983A>T	XP_011507586.1:n.*983A>T
XM_011509286.2:c.*983A>T	XP_011507588.1:n.*983A>T
NM_001994.3:c.*62A>T MANE Select	NP_001985.2:n.*62A>T