Canonical Allele Identifier: CA563668656

Gene: HAVCR1

Linked Data

• dbSNP Id: rs1229938092
• gnomAD v2: 5-156486427-C-G
• gnomAD v3: 5-157059416-C-G
• gnomAD v4: 5-157059416-C-G
• MyVariant Identifiers: chr5:g.156486427C>G (hg19) ; chr5:g.157059416C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157059416C>G , CM000667.2:g.157059416C>G	GRCh38
NC_000005.9:g.156486427C>G , CM000667.1:g.156486427C>G	GRCh37
NC_000005.8:g.156419005C>G	NCBI36
NG_017001.1:g.4544G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699093.1:c.-12-1461G>C	ENSP00000514125.1:n.-12-1461G>C
XM_011534511.1:c.-133-1340G>C	XP_011532813.1:n.-133-1340G>C
XM_011534513.1:c.-12-1461G>C	XP_011532815.1:n.-12-1461G>C
XM_024446020.1:c.-136-1337G>C	XP_024301788.1:n.-136-1337G>C
XM_024446021.1:c.-133-1340G>C	XP_024301789.1:n.-133-1340G>C
XM_024446023.1:c.-12-1461G>C	XP_024301791.1:n.-12-1461G>C