Canonical Allele Identifier: CA10882103

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 1188983
• ClinVar RCV Id: RCV001549177 ; RCV001549178 ; RCV001549175 ; RCV001713032 ; RCV001549176
• dbSNP Id: rs547806
• gnomAD v2: 1-94495930-T-C
• gnomAD v3: 1-94030374-T-C
• gnomAD v4: 1-94030374-T-C
• MyVariant Identifiers: chr1:g.94495930T>C (hg19) ; chr1:g.94030374T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030374T>C , CM000663.2:g.94030374T>C	GRCh38
NC_000001.10:g.94495930T>C , CM000663.1:g.94495930T>C	GRCh37
NC_000001.9:g.94268518T>C	NCBI36
NG_009073.1:g.95776A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4352+54A>G MANE Select	ENSP00000359245.3:n.4352+54A>G
ENST00000370225.3:c.4352+54A>G	ENSP00000359245.3:n.4352+54A>G
ENST00000536513.5:c.728+54A>G	ENSP00000439707.2:n.728+54A>G
NM_000350.2:c.4352+54A>G	NP_000341.2:n.4352+54A>G
NM_000350.3:c.4352+54A>G MANE Select	NP_000341.2:n.4352+54A>G