ClinGen Allele Registry
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Canonical Allele Identifier:
CA3691576
Gene: HCG4
HGNC
NCBI
HLA-V
HGNC
NCBI
Linked Data
dbSNP Id:
rs11539957
ExAC:
6:29760354 C / G
gnomAD v2:
6-29760354-C-G
gnomAD v4:
6-29792577-C-G
MyVariant Identifiers:
chr6:g.29760354C>G (hg19)
chr6:g.29792577C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.29792577C>G , CM000668.2:g.29792577C>G
GRCh38
NC_000006.11:g.29760354C>G , CM000668.1:g.29760354C>G
GRCh37
NC_000006.10:g.29868333C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000418983.1:n.174G>C
(HCG4)
ENST00000429037.2:n.213C>G
(HLA-V)
ENST00000446817.1:n.323C>G
(HLA-V)
ENST00000457107.5:n.224C>G
(HLA-V)
ENST00000476601.5:n.541C>G
(HLA-V)
NM_001207043.1:c.439C>G
NP_001193972.1:p.Arg147Gly
NR_002139.2:n.497G>C
(HCG4)
NR_132323.1:n.541C>G
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