Canonical Allele Identifier: CA566336543
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1303848352
gnomAD v2: 6-31238449-A-G
gnomAD v3: 6-31270672-A-G
gnomAD v4: 6-31270672-A-G
MyVariant Identifiers: chr6:g.31238449A>G (hg19) chr6:g.31270672A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270672A>G , CM000668.2:g.31270672A>G GRCh38
NC_000006.11:g.31238449A>G , CM000668.1:g.31238449A>G GRCh37
NC_000006.10:g.31346428A>G NCBI36
NG_029422.2:g.6460T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.620-187T>C MANE Select ENSP00000365402.5:n.620-187T>C
ENST00000376228.9:c.620-187T>C ENSP00000365402.5:n.620-187T>C
ENST00000376237.8:c.*207-187T>C ENSP00000365412.4:n.*207-187T>C
ENST00000383329.7:c.620-187T>C ENSP00000372819.3:n.620-187T>C
ENST00000415537.1:c.618-187T>C
ENST00000487245.5:n.979-187T>C
ENST00000495835.1:n.809-187T>C
NM_002117.5:c.620-187T>C NP_002108.4:n.620-187T>C
NM_002117.6:c.620-187T>C MANE Select NP_002108.4:n.620-187T>C
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