Canonical Allele Identifier: CA119135

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 7894
• ClinVar RCV Id: RCV000008348 ; RCV000008350 ; RCV000085549 ; RCV000505109 ; RCV000763046 ; RCV000787493 ; RCV000787494 ; RCV000787495 ; RCV000778259 ; RCV001196125 ; RCV001000014
• dbSNP Id: rs61751374
• ExAC: 1:94508969 G / A
• gnomAD v2: 1-94508969-G-A
• gnomAD v3: 1-94043413-G-A
• gnomAD v4: 1-94043413-G-A
• MyVariant Identifiers: chr1:g.94508969G>A (hg19) ; chr1:g.94043413G>A (hg38)
• PubMed: PMID:9054934 ; PMID:9466990 ; PMID:9973280 ; PMID:10090887 ; PMID:10711710 ; PMID:10958763 ; PMID:11017087 ; PMID:12796258 ; PMID:15579991 ; PMID:16103129 ; PMID:19074458 ; PMID:19217903 ; PMID:22312191 ; PMID:23891399 ; PMID:24509150 ; PMID:25087612 ; PMID:25712131 ; PMID:26593885 ; PMID:28041643 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043413G>A , CM000663.2:g.94043413G>A	GRCh38
NC_000001.10:g.94508969G>A , CM000663.1:g.94508969G>A	GRCh37
NC_000001.9:g.94281557G>A	NCBI36
NG_009073.1:g.82737C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3113C>T MANE Select	ENSP00000359245.3:p.Ala1038Val
ENST00000370225.3:c.3113C>T	ENSP00000359245.3:p.Ala1038Val
ENST00000536513.5:c.-64-3324C>T	ENSP00000439707.2:n.-64-3324C>T
NM_000350.2:c.3113C>T	NP_000341.2:p.Ala1038Val
NM_000350.3:c.3113C>T MANE Select	NP_000341.2:p.Ala1038Val