Canonical Allele Identifier: CA1087427983
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs2113912932
gnomAD v3: 6-31271545-T-A
gnomAD v4: 6-31271545-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271545T>A , CM000668.2:g.31271545T>A GRCh38
NC_000006.11:g.31239322T>A , CM000668.1:g.31239322T>A GRCh37
NC_000006.10:g.31347301T>A NCBI36
NG_029422.2:g.5587A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.343+54A>T MANE Select ENSP00000365402.5:n.343+54A>T
ENST00000376228.9:c.343+54A>T ENSP00000365402.5:n.343+54A>T
ENST00000376237.8:c.343+54A>T ENSP00000365412.4:n.343+54A>T
ENST00000383329.7:c.343+54A>T ENSP00000372819.3:n.343+54A>T
ENST00000415537.1:c.341+54A>T
ENST00000484378.1:n.416A>T
ENST00000487245.5:n.506A>T
ENST00000495835.1:n.532+54A>T
NM_002117.5:c.343+54A>T NP_002108.4:n.343+54A>T
NM_002117.6:c.343+54A>T MANE Select NP_002108.4:n.343+54A>T
Search 100 bp 5'
Search 100 bp 3'