Canonical Allele Identifier: CA343993310

Gene: F13B

Linked Data

• gnomAD v4: 1-197039406-A-G
• MyVariant Identifiers: chr1:g.197008536A>G (hg19) ; chr1:g.197039406A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039406A>G , CM000663.2:g.197039406A>G	GRCh38
NC_000001.10:g.197008536A>G , CM000663.1:g.197008536A>G	GRCh37
NC_000001.9:g.195275159A>G	NCBI36
NG_012065.1:g.32862T>C , LRG_550:g.32862T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1958T>C MANE Select	ENSP00000356382.2:p.Leu653Pro
ENST00000649282.1:c.713T>C	ENSP00000497116.1:p.Leu238Pro
ENST00000367412.1:c.1958T>C	ENSP00000356382.1:p.Leu653Pro
NM_001994.2:c.1958T>C , LRG_550t1:c.1958T>C	NP_001985.2:p.Leu653Pro
XM_011509283.2:c.*893T>C	XP_011507585.1:n.*893T>C
XM_011509284.2:c.*893T>C	XP_011507586.1:n.*893T>C
XM_011509286.2:c.*893T>C	XP_011507588.1:n.*893T>C
NM_001994.3:c.1958T>C MANE Select	NP_001985.2:p.Leu653Pro