Canonical Allele Identifier: CA2605708981
Gene: HAVCR1 HGNC NCBI

Linked Data

dbSNP Id: rs2113657869
gnomAD v3: 5-157059490-C-T
gnomAD v4: 5-157059490-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157059490C>T , CM000667.2:g.157059490C>T GRCh38
NC_000005.9:g.156486501C>T , CM000667.1:g.156486501C>T GRCh37
NC_000005.8:g.156419079C>T NCBI36
NG_017001.1:g.4470G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699093.1:c.-12-1535G>A ENSP00000514125.1:n.-12-1535G>A
XM_011534511.1:c.-133-1414G>A XP_011532813.1:n.-133-1414G>A
XM_011534513.1:c.-12-1535G>A XP_011532815.1:n.-12-1535G>A
XM_024446020.1:c.-136-1411G>A XP_024301788.1:n.-136-1411G>A
XM_024446021.1:c.-133-1414G>A XP_024301789.1:n.-133-1414G>A
XM_024446023.1:c.-12-1535G>A XP_024301791.1:n.-12-1535G>A
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