Canonical Allele Identifier: CA3710772
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs41544015
ExAC: 6:31239081 C / G
gnomAD v2: 6-31239081-C-G
gnomAD v3: 6-31271304-C-G
gnomAD v4: 6-31271304-C-G
MyVariant Identifiers: chr6:g.31239081C>G (hg19) chr6:g.31271304C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271304C>G , CM000668.2:g.31271304C>G GRCh38
NC_000006.11:g.31239081C>G , CM000668.1:g.31239081C>G GRCh37
NC_000006.10:g.31347060C>G NCBI36
NG_029422.2:g.5828G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.388G>C MANE Select ENSP00000365402.5:p.Asp130His
ENST00000376228.9:c.388G>C ENSP00000365402.5:p.Asp130His
ENST00000376237.8:c.371G>C ENSP00000365412.4:p.Arg124Pro
ENST00000383329.7:c.388G>C ENSP00000372819.3:p.Asp130His
ENST00000415537.1:c.386G>C
ENST00000484378.1:n.657G>C
ENST00000487245.5:n.747G>C
ENST00000495835.1:n.577G>C
NM_002117.5:c.388G>C NP_002108.4:p.Asp130His
NM_002117.6:c.388G>C MANE Select NP_002108.4:p.Asp130His
Search 100 bp 5'
Search 100 bp 3'