Canonical Allele Identifier: CA3710872

Gene: HLA-C

Linked Data

• dbSNP Id: rs760864385
• ExAC: 6:31239435 GCC / G
• gnomAD v2: 6-31239435-GCC-G
• gnomAD v3: 6-31271658-GCC-G
• gnomAD v4: 6-31271658-GCC-G
• MyVariant Identifiers: chr6:g.31239436_31239437del (hg19) ; chr6:g.31271659_31271660del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271659_31271660del , CM000668.2:g.31271659_31271660del	GRCh38
NC_000006.11:g.31239436_31239437del , CM000668.1:g.31239436_31239437del	GRCh37
NC_000006.10:g.31347415_31347416del	NCBI36
NG_029422.2:g.5472_5473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.282_283del MANE Select	ENSP00000365402.5:p.Gln94HisfsTer4
ENST00000376228.9:c.282_283del	ENSP00000365402.5:p.Gln94HisfsTer4
ENST00000376237.8:c.282_283del	ENSP00000365412.4:p.Gln94HisfsTer4
ENST00000383329.7:c.282_283del	ENSP00000372819.3:p.Gln94HisfsTer4
ENST00000415537.1:c.280_281del
ENST00000484378.1:n.301_302del
ENST00000487245.5:n.391_392del
ENST00000495835.1:n.471_472del
NM_002117.5:c.282_283del	NP_002108.4:p.Gln94HisfsTer4
NM_002117.6:c.282_283del MANE Select	NP_002108.4:p.Gln94HisfsTer4