Canonical Allele Identifier: CA449790018
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1419661240
gnomAD v2: 6-31237828-G-A
gnomAD v4: 6-31270051-G-A
MyVariant Identifiers: chr6:g.31237828G>A (hg19) chr6:g.31270051G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270051G>A , CM000668.2:g.31270051G>A GRCh38
NC_000006.11:g.31237828G>A , CM000668.1:g.31237828G>A GRCh37
NC_000006.10:g.31345807G>A NCBI36
NG_029422.2:g.7081C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.930C>T MANE Select ENSP00000365402.5:p.Gly310=
ENST00000376228.9:c.930C>T ENSP00000365402.5:p.Gly310=
ENST00000376237.8:c.*517C>T ENSP00000365412.4:n.*517C>T
ENST00000383329.7:c.930C>T ENSP00000372819.3:p.Gly310=
ENST00000470363.5:n.248C>T
ENST00000487245.5:n.1289C>T
NM_002117.5:c.930C>T NP_002108.4:p.Gly310=
NM_002117.6:c.930C>T MANE Select NP_002108.4:p.Gly310=
Search 100 bp 5'
Search 100 bp 3'