Canonical Allele Identifier: CA3710656
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs281860547
ExAC: 6:31238855 C / T
gnomAD v2: 6-31238855-C-T
gnomAD v3: 6-31271078-C-T
gnomAD v4: 6-31271078-C-T
MyVariant Identifiers: chr6:g.31238855C>T (hg19) chr6:g.31271078C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271078C>T , CM000668.2:g.31271078C>T GRCh38
NC_000006.11:g.31238855C>T , CM000668.1:g.31238855C>T GRCh37
NC_000006.10:g.31346834C>T NCBI36
NG_029422.2:g.6054G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.614G>A MANE Select ENSP00000365402.5:p.Arg205His
ENST00000376228.9:c.614G>A ENSP00000365402.5:p.Arg205His
ENST00000376237.8:c.*201G>A ENSP00000365412.4:n.*201G>A
ENST00000383329.7:c.614G>A ENSP00000372819.3:p.Arg205His
ENST00000415537.1:c.612G>A
ENST00000487245.5:n.973G>A
ENST00000495835.1:n.803G>A
NM_002117.5:c.614G>A NP_002108.4:p.Arg205His
NM_002117.6:c.614G>A MANE Select NP_002108.4:p.Arg205His
Search 100 bp 5'
Search 100 bp 3'