Canonical Allele Identifier: CA1087425097
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs2113908167
gnomAD v3: 6-31270817-T-G
gnomAD v4: 6-31270817-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270817T>G , CM000668.2:g.31270817T>G GRCh38
NC_000006.11:g.31238594T>G , CM000668.1:g.31238594T>G GRCh37
NC_000006.10:g.31346573T>G NCBI36
NG_029422.2:g.6315A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.619+256A>C MANE Select ENSP00000365402.5:n.619+256A>C
ENST00000376228.9:c.619+256A>C ENSP00000365402.5:n.619+256A>C
ENST00000376237.8:c.*206+256A>C ENSP00000365412.4:n.*206+256A>C
ENST00000383329.7:c.619+256A>C ENSP00000372819.3:n.619+256A>C
ENST00000415537.1:c.617+256A>C
ENST00000487245.5:n.978+256A>C
ENST00000495835.1:n.808+256A>C
NM_002117.5:c.619+256A>C NP_002108.4:n.619+256A>C
NM_002117.6:c.619+256A>C MANE Select NP_002108.4:n.619+256A>C
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