Canonical Allele Identifier: CA3710665
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs2308598
ExAC: 6:31238889 T / C
gnomAD v2: 6-31238889-T-C
gnomAD v3: 6-31271112-T-C
gnomAD v4: 6-31271112-T-C
MyVariant Identifiers: chr6:g.31238889T>C (hg19) chr6:g.31271112T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271112T>C , CM000668.2:g.31271112T>C GRCh38
NC_000006.11:g.31238889T>C , CM000668.1:g.31238889T>C GRCh37
NC_000006.10:g.31346868T>C NCBI36
NG_029422.2:g.6020A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.580A>G MANE Select ENSP00000365402.5:p.Arg194Gly
ENST00000376228.9:c.580A>G ENSP00000365402.5:p.Arg194Gly
ENST00000376237.8:c.*167A>G ENSP00000365412.4:n.*167A>G
ENST00000383329.7:c.580A>G ENSP00000372819.3:p.Arg194Gly
ENST00000415537.1:c.578A>G
ENST00000484378.1:n.849A>G
ENST00000487245.5:n.939A>G
ENST00000495835.1:n.769A>G
NM_002117.5:c.580A>G NP_002108.4:p.Arg194Gly
NM_002117.6:c.580A>G MANE Select NP_002108.4:p.Arg194Gly
Search 100 bp 5'
Search 100 bp 3'