Canonical Allele Identifier: CA136861126
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs930469212
gnomAD v2: 6-31236746-G-A
gnomAD v3: 6-31268969-G-A
gnomAD v4: 6-31268969-G-A
MyVariant Identifiers: chr6:g.31236746G>A (hg19) chr6:g.31268969G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31268969G>A , CM000668.2:g.31268969G>A GRCh38
NC_000006.11:g.31236746G>A , CM000668.1:g.31236746G>A GRCh37
NC_000006.10:g.31344725G>A NCBI36
NG_029422.2:g.8163C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.*200C>T MANE Select ENSP00000365402.5:n.*200C>T
ENST00000376228.9:c.*200C>T ENSP00000365402.5:n.*200C>T
ENST00000376237.8:c.*888C>T ENSP00000365412.4:n.*888C>T
ENST00000383329.7:c.*200C>T ENSP00000372819.3:n.*200C>T
ENST00000466892.5:n.534C>T
ENST00000470363.5:n.1059C>T
ENST00000487245.5:n.1660C>T
NM_002117.5:c.*200C>T NP_002108.4:n.*200C>T
NM_002117.6:c.*200C>T MANE Select NP_002108.4:n.*200C>T
Search 100 bp 5'
Search 100 bp 3'