Canonical Allele Identifier: CA806194996

Gene: HAVCR1

Linked Data

• dbSNP Id: rs1158200700
• gnomAD v3: 5-157059368-T-C
• gnomAD v4: 5-157059368-T-C
• MyVariant Identifiers: chr5:g.156486379T>C (hg19) ; chr5:g.157059368T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157059368T>C , CM000667.2:g.157059368T>C	GRCh38
NC_000005.9:g.156486379T>C , CM000667.1:g.156486379T>C	GRCh37
NC_000005.8:g.156418957T>C	NCBI36
NG_017001.1:g.4592A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699093.1:c.-12-1413A>G	ENSP00000514125.1:n.-12-1413A>G
XM_011534511.1:c.-133-1292A>G	XP_011532813.1:n.-133-1292A>G
XM_011534513.1:c.-12-1413A>G	XP_011532815.1:n.-12-1413A>G
XM_024446020.1:c.-136-1289A>G	XP_024301788.1:n.-136-1289A>G
XM_024446021.1:c.-133-1292A>G	XP_024301789.1:n.-133-1292A>G
XM_024446023.1:c.-12-1413A>G	XP_024301791.1:n.-12-1413A>G