Canonical Allele Identifier: CA422666652

Gene: F13B

Linked Data

• gnomAD v4: 1-197039381-T-C
• MyVariant Identifiers: chr1:g.197008511T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039381T>C , CM000663.2:g.197039381T>C	GRCh38
NC_000001.10:g.197008511T>C , CM000663.1:g.197008511T>C	GRCh37
NC_000001.9:g.195275134T>C	NCBI36
NG_012065.1:g.32887A>G , LRG_550:g.32887A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367412.2:c.1983A>G MANE Select	ENSP00000356382.2:p.Thr661=
ENST00000649282.1:c.738A>G	ENSP00000497116.1:p.Thr246=
ENST00000367412.1:c.1983A>G	ENSP00000356382.1:p.Thr661=
NM_001994.2:c.1983A>G , LRG_550t1:c.1983A>G	NP_001985.2:p.Thr661=
XM_011509283.2:c.*918A>G	XP_011507585.1:n.*918A>G
XM_011509284.2:c.*918A>G	XP_011507586.1:n.*918A>G
XM_011509286.2:c.*918A>G	XP_011507588.1:n.*918A>G
NM_001994.3:c.1983A>G MANE Select	NP_001985.2:p.Thr661=