Canonical Allele Identifier: CA227439

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99487
• ClinVar RCV Id: RCV000085848 ; RCV001075235 ; RCV003324515
• dbSNP Id: rs61748521
• ExAC: 1:94463425 G / C
• gnomAD v2: 1-94463425-G-C
• gnomAD v3: 1-93997869-G-C
• gnomAD v4: 1-93997869-G-C
• MyVariant Identifiers: chr1:g.94463425G>C (hg19) ; chr1:g.93997869G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997869G>C , CM000663.2:g.93997869G>C	GRCh38
NC_000001.10:g.94463425G>C , CM000663.1:g.94463425G>C	GRCh37
NC_000001.9:g.94236013G>C	NCBI36
NG_009073.1:g.128281C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6721C>G MANE Select	ENSP00000359245.3:p.Leu2241Val
ENST00000370225.3:c.6721C>G	ENSP00000359245.3:p.Leu2241Val
ENST00000536513.5:c.3097C>G	ENSP00000439707.2:p.Leu1033Val
NM_000350.2:c.6721C>G	NP_000341.2:p.Leu2241Val
NM_000350.3:c.6721C>G MANE Select	NP_000341.2:p.Leu2241Val