Canonical Allele Identifier: CA449610297
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31270388-C-G
gnomAD v4: 6-31270388-C-G
MyVariant Identifiers: chr6:g.31238165C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270388C>G , CM000668.2:g.31270388C>G GRCh38
NC_000006.11:g.31238165C>G , CM000668.1:g.31238165C>G GRCh37
NC_000006.10:g.31346144C>G NCBI36
NG_029422.2:g.6744G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.717G>C MANE Select ENSP00000365402.5:p.Leu239=
ENST00000376228.9:c.717G>C ENSP00000365402.5:p.Leu239=
ENST00000376237.8:c.*304G>C ENSP00000365412.4:n.*304G>C
ENST00000383329.7:c.717G>C ENSP00000372819.3:p.Leu239=
ENST00000415537.1:c.664+51G>C
ENST00000470363.5:n.35G>C
ENST00000487245.5:n.1076G>C
ENST00000495835.1:n.906G>C
NM_002117.5:c.717G>C NP_002108.4:p.Leu239=
NM_002117.6:c.717G>C MANE Select NP_002108.4:p.Leu239=