Canonical Allele Identifier: CA226936

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99087
• ClinVar RCV Id: RCV000085431 ; RCV000408475 ; RCV000787762 ; RCV001075859
• dbSNP Id: rs61749412
• ExAC: 1:94528251 C / T
• gnomAD v2: 1-94528251-C-T
• gnomAD v3: 1-94062695-C-T
• gnomAD v4: 1-94062695-C-T
• MyVariant Identifiers: chr1:g.94528251C>T (hg19) ; chr1:g.94062695C>T (hg38)
• PubMed: PMID:10958763 ; PMID:28041643 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062695C>T , CM000663.2:g.94062695C>T	GRCh38
NC_000001.10:g.94528251C>T , CM000663.1:g.94528251C>T	GRCh37
NC_000001.9:g.94300839C>T	NCBI36
NG_009073.1:g.63455G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1819G>A MANE Select	ENSP00000359245.3:p.Gly607Arg
ENST00000649773.1:c.1819G>A	ENSP00000496882.1:p.Gly607Arg
ENST00000370225.3:c.1819G>A	ENSP00000359245.3:p.Gly607Arg
ENST00000536513.5:c.-65+479G>A	ENSP00000439707.2:n.-65+479G>A
NM_000350.2:c.1819G>A	NP_000341.2:p.Gly607Arg
NM_000350.3:c.1819G>A MANE Select	NP_000341.2:p.Gly607Arg