Canonical Allele Identifier: CA6638094

Gene: SDR9C7

Linked Data

• ClinVar Variation Id: 488591
• ClinVar RCV Id: RCV000578258 ; RCV000782401 ; RCV002269290
• dbSNP Id: rs774363396
• ExAC: 12:57323240 G / A
• gnomAD v2: 12-57323240-G-A
• gnomAD v4: 12-56929456-G-A
• COSMIC: COSM1987992
• MyVariant Identifiers: chr12:g.57323240G>A (hg19) ; chr12:g.56929456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56929456G>A , CM000674.2:g.56929456G>A	GRCh38
NC_000012.11:g.57323240G>A , CM000674.1:g.57323240G>A	GRCh37
NC_000012.10:g.55609507G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293502.2:c.658C>T MANE Select	ENSP00000293502.1:p.Arg220Ter
ENST00000293502.1:c.658C>T	ENSP00000293502.1:p.Arg220Ter
NM_148897.2:c.658C>T	NP_683695.1:p.Arg220Ter
NM_148897.3:c.658C>T MANE Select	NP_683695.1:p.Arg220Ter