Canonical Allele Identifier: CA130129952
Gene: HAVCR1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.157058357A>T
GRCh37 chr5:g.156485368A>T
gnomAD v2:
5:156485368 A / T
gnomAD v3:
5:157058357 A / T
gnomAD v4:
chr5-157058357-A-T
Joint Max Group AF 0.01980391 (AFR)
Genomes Max Group AF 0.01974806 (AFR)
Exomes Max Group AF 0.01440882 (AFR)
dbSNP:
34333511
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157058357A>T , CM000667.2:g.157058357A>T GRCh38
NC_000005.9:g.156485368A>T , CM000667.1:g.156485368A>T GRCh37
NC_000005.8:g.156417946A>T NCBI36
NG_017001.1:g.5603T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339252.8:c.-414T>A ENSP00000344844.3:n.-414T>A
ENST00000698790.1:c.-66T>A ENSP00000513932.1:n.-66T>A
ENST00000699093.1:c.-12-402T>A ENSP00000514125.1:n.-12-402T>A
ENST00000523175.6:c.-12-402T>A MANE Select ENSP00000427898.1:n.-12-402T>A
ENST00000339252.7:c.-414T>A ENSP00000344844.3:n.-414T>A
ENST00000518745.1:c.-66T>A ENSP00000428422.1:n.-66T>A
ENST00000522693.5:c.-133-281T>A ENSP00000428524.1:n.-133-281T>A
ENST00000523175.5:c.-12-402T>A ENSP00000427898.1:n.-12-402T>A
ENST00000625904.2:c.-414T>A ENSP00000487363.1:n.-414T>A
NM_001099414.1:c.-66T>A NP_001092884.1:n.-66T>A
NM_001173393.1:c.-12-402T>A NP_001166864.1:n.-12-402T>A
NM_001173393.2:c.-12-402T>A NP_001166864.1:n.-12-402T>A
NM_001308156.1:c.-133-281T>A NP_001295085.1:n.-133-281T>A
NM_012206.2:c.-414T>A NP_036338.2:n.-414T>A
XM_011534509.1:c.-136-278T>A XP_011532811.1:n.-136-278T>A
XM_011534511.1:c.-133-281T>A XP_011532813.1:n.-133-281T>A
XM_011534512.1:c.-12-402T>A XP_011532814.1:n.-12-402T>A
XM_011534513.1:c.-12-402T>A XP_011532815.1:n.-12-402T>A
XM_017009339.2:c.-136-278T>A XP_016864828.1:n.-136-278T>A
XM_024446019.1:c.-136-278T>A XP_024301787.1:n.-136-278T>A
XM_024446020.1:c.-136-278T>A XP_024301788.1:n.-136-278T>A
XM_024446021.1:c.-133-281T>A XP_024301789.1:n.-133-281T>A
XM_024446022.1:c.-12-402T>A XP_024301790.1:n.-12-402T>A
XM_024446023.1:c.-12-402T>A XP_024301791.1:n.-12-402T>A
XM_024446024.1:c.-136-278T>A XP_024301792.1:n.-136-278T>A
NM_001173393.3:c.-12-402T>A MANE Select NP_001166864.1:n.-12-402T>A
NM_001308156.2:c.-133-281T>A NP_001295085.1:n.-133-281T>A
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