Canonical Allele Identifier: CA563668653

Gene: HAVCR1

Linked Data

• dbSNP Id: rs1429024540
• gnomAD v2: 5-156486330-C-T
• MyVariant Identifiers: chr5:g.156486330C>T (hg19) ; chr5:g.157059319C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157059319C>T , CM000667.2:g.157059319C>T	GRCh38
NC_000005.9:g.156486330C>T , CM000667.1:g.156486330C>T	GRCh37
NC_000005.8:g.156418908C>T	NCBI36
NG_017001.1:g.4641G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699093.1:c.-12-1364G>A	ENSP00000514125.1:n.-12-1364G>A
XM_011534511.1:c.-133-1243G>A	XP_011532813.1:n.-133-1243G>A
XM_011534513.1:c.-12-1364G>A	XP_011532815.1:n.-12-1364G>A
XM_024446020.1:c.-136-1240G>A	XP_024301788.1:n.-136-1240G>A
XM_024446021.1:c.-133-1243G>A	XP_024301789.1:n.-133-1243G>A
XM_024446023.1:c.-12-1364G>A	XP_024301791.1:n.-12-1364G>A