Canonical Allele Identifier: CA563668654

Gene: HAVCR1

Linked Data

• dbSNP Id: rs1388833861
• gnomAD v2: 5-156486369-G-C
• gnomAD v3: 5-157059358-G-C
• gnomAD v4: 5-157059358-G-C
• MyVariant Identifiers: chr5:g.156486369G>C (hg19) ; chr5:g.157059358G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157059358G>C , CM000667.2:g.157059358G>C	GRCh38
NC_000005.9:g.156486369G>C , CM000667.1:g.156486369G>C	GRCh37
NC_000005.8:g.156418947G>C	NCBI36
NG_017001.1:g.4602C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699093.1:c.-12-1403C>G	ENSP00000514125.1:n.-12-1403C>G
XM_011534511.1:c.-133-1282C>G	XP_011532813.1:n.-133-1282C>G
XM_011534513.1:c.-12-1403C>G	XP_011532815.1:n.-12-1403C>G
XM_024446020.1:c.-136-1279C>G	XP_024301788.1:n.-136-1279C>G
XM_024446021.1:c.-133-1282C>G	XP_024301789.1:n.-133-1282C>G
XM_024446023.1:c.-12-1403C>G	XP_024301791.1:n.-12-1403C>G