Canonical Allele Identifier: CA14839530

Gene: SDC4

Linked Data

• ClinVar Variation Id: 444106
• ClinVar RCV Id: RCV000626342
• dbSNP Id: rs985586
• gnomAD v2: 20-43957510-G-A
• gnomAD v3: 20-45328870-G-A
• gnomAD v4: 20-45328870-G-A
• MyVariant Identifiers: chr20:g.43957510G>A (hg19) ; chr20:g.45328870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45328870G>A , CM000682.2:g.45328870G>A	GRCh38
NC_000020.10:g.43957510G>A , CM000682.1:g.43957510G>A	GRCh37
NC_000020.9:g.43390924G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372733.3:c.446-1455C>T MANE Select	ENSP00000361818.3:n.446-1455C>T
NM_002999.3:c.446-1455C>T	NP_002990.2:n.446-1455C>T
XM_011528977.1:c.230-1455C>T	XP_011527279.1:n.230-1455C>T
XM_011528977.2:c.230-1455C>T	XP_011527279.1:n.230-1455C>T
NM_002999.4:c.446-1455C>T MANE Select	NP_002990.2:n.446-1455C>T