Canonical Allele Identifier: CA563668665

Gene: HAVCR1

Linked Data

• dbSNP Id: rs1387335954
• gnomAD v2: 5-156486543-G-A
• gnomAD v3: 5-157059532-G-A
• gnomAD v4: 5-157059532-G-A
• MyVariant Identifiers: chr5:g.156486543G>A (hg19) ; chr5:g.157059532G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157059532G>A , CM000667.2:g.157059532G>A	GRCh38
NC_000005.9:g.156486543G>A , CM000667.1:g.156486543G>A	GRCh37
NC_000005.8:g.156419121G>A	NCBI36
NG_017001.1:g.4428C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699093.1:c.-12-1577C>T	ENSP00000514125.1:n.-12-1577C>T
XM_011534511.1:c.-133-1456C>T	XP_011532813.1:n.-133-1456C>T
XM_011534513.1:c.-12-1577C>T	XP_011532815.1:n.-12-1577C>T
XM_024446020.1:c.-136-1453C>T	XP_024301788.1:n.-136-1453C>T
XM_024446021.1:c.-133-1456C>T	XP_024301789.1:n.-133-1456C>T
XM_024446023.1:c.-12-1577C>T	XP_024301791.1:n.-12-1577C>T