Canonical Allele Identifier: CA15966861

Gene: SDC4

Linked Data

• ClinVar Variation Id: 444113
• ClinVar RCV Id: RCV000626349
• dbSNP Id: rs2072792
• gnomAD v2: 20-43964288-T-C
• gnomAD v3: 20-45335648-T-C
• gnomAD v4: 20-45335648-T-C
• MyVariant Identifiers: chr20:g.43964288T>C (hg19) ; chr20:g.45335648T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45335648T>C , CM000682.2:g.45335648T>C	GRCh38
NC_000020.10:g.43964288T>C , CM000682.1:g.43964288T>C	GRCh37
NC_000020.9:g.43397702T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372733.3:c.199+134A>G MANE Select	ENSP00000361818.3:n.199+134A>G
NM_002999.3:c.199+134A>G	NP_002990.2:n.199+134A>G
XM_011528977.1:c.-17-2579A>G	XP_011527279.1:n.-17-2579A>G
XM_011528977.2:c.-17-2579A>G	XP_011527279.1:n.-17-2579A>G
NM_002999.4:c.199+134A>G MANE Select	NP_002990.2:n.199+134A>G