Canonical Allele Identifier: CA3710710
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs41543523
ExAC: 6:31238945 C / A
gnomAD v2: 6-31238945-C-A
gnomAD v3: 6-31271168-C-A
gnomAD v4: 6-31271168-C-A
MyVariant Identifiers: chr6:g.31238945C>A (hg19) chr6:g.31271168C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271168C>A , CM000668.2:g.31271168C>A GRCh38
NC_000006.11:g.31238945C>A , CM000668.1:g.31238945C>A GRCh37
NC_000006.10:g.31346924C>A NCBI36
NG_029422.2:g.5964G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.524G>T MANE Select ENSP00000365402.5:p.Arg175Leu
ENST00000376228.9:c.524G>T ENSP00000365402.5:p.Arg175Leu
ENST00000376237.8:c.*111G>T ENSP00000365412.4:n.*111G>T
ENST00000383329.7:c.524G>T ENSP00000372819.3:p.Arg175Leu
ENST00000415537.1:c.522G>T
ENST00000484378.1:n.793G>T
ENST00000487245.5:n.883G>T
ENST00000495835.1:n.713G>T
NM_002117.5:c.524G>T NP_002108.4:p.Arg175Leu
NM_002117.6:c.524G>T MANE Select NP_002108.4:p.Arg175Leu
Search 100 bp 5'
Search 100 bp 3'