Canonical Allele Identifier: CA3710561
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs41542217
ExAC: 6:31238110 T / G
gnomAD v2: 6-31238110-T-G
gnomAD v3: 6-31270333-T-G
gnomAD v4: 6-31270333-T-G
MyVariant Identifiers: chr6:g.31238110T>G (hg19) chr6:g.31270333T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270333T>G , CM000668.2:g.31270333T>G GRCh38
NC_000006.11:g.31238110T>G , CM000668.1:g.31238110T>G GRCh37
NC_000006.10:g.31346089T>G NCBI36
NG_029422.2:g.6799A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.772A>C MANE Select ENSP00000365402.5:p.Arg258=
ENST00000376228.9:c.772A>C ENSP00000365402.5:p.Arg258=
ENST00000376237.8:c.*359A>C ENSP00000365412.4:n.*359A>C
ENST00000383329.7:c.772A>C ENSP00000372819.3:p.Arg258=
ENST00000415537.1:c.665-2A>C
ENST00000470363.5:n.90A>C
ENST00000487245.5:n.1131A>C
ENST00000495835.1:n.961A>C
NM_002117.5:c.772A>C NP_002108.4:p.Arg258=
NM_002117.6:c.772A>C MANE Select NP_002108.4:p.Arg258=
Search 100 bp 5'
Search 100 bp 3'