Canonical Allele Identifier: CA226931

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99083
• ClinVar RCV Id: RCV000085427 ; RCV000408452 ; RCV000763051 ; RCV001073359
• dbSNP Id: rs55732384
• ExAC: 1:94577117 G / A
• gnomAD v2: 1-94577117-G-A
• gnomAD v3: 1-94111561-G-A
• gnomAD v4: 1-94111561-G-A
• MyVariant Identifiers: chr1:g.94577117G>A (hg19) ; chr1:g.94111561G>A (hg38)
• PubMed: PMID:9973280 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111561G>A , CM000663.2:g.94111561G>A	GRCh38
NC_000001.10:g.94577117G>A , CM000663.1:g.94577117G>A	GRCh37
NC_000001.9:g.94349705G>A	NCBI36
NG_009073.1:g.14589C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.179C>T MANE Select	ENSP00000359245.3:p.Ala60Val
ENST00000649773.1:c.179C>T	ENSP00000496882.1:p.Ala60Val
ENST00000370225.3:c.179C>T	ENSP00000359245.3:p.Ala60Val
NM_000350.2:c.179C>T	NP_000341.2:p.Ala60Val
NM_000350.3:c.179C>T MANE Select	NP_000341.2:p.Ala60Val