Canonical Allele Identifier: CA958466

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 236083
• ClinVar RCV Id: RCV000298675 ; RCV000312006 ; RCV000337235 ; RCV000391529 ; RCV000408457 ; RCV001100053 ; RCV001522285 ; RCV004020725 ; RCV003888651
• dbSNP Id: rs201602424
• ExAC: 1:94528814 G / A
• gnomAD v2: 1-94528814-G-A
• gnomAD v3: 1-94063258-G-A
• gnomAD v4: 1-94063258-G-A
• MyVariant Identifiers: chr1:g.94528814G>A (hg19) ; chr1:g.94063258G>A (hg38)
• PubMed: PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94063258G>A , CM000663.2:g.94063258G>A	GRCh38
NC_000001.10:g.94528814G>A , CM000663.1:g.94528814G>A	GRCh37
NC_000001.9:g.94301402G>A	NCBI36
NG_009073.1:g.62892C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1614C>T MANE Select	ENSP00000359245.3:p.Ala538=
ENST00000649773.1:c.1614C>T	ENSP00000496882.1:p.Ala538=
ENST00000370225.3:c.1614C>T	ENSP00000359245.3:p.Ala538=
NM_000350.2:c.1614C>T	NP_000341.2:p.Ala538=
NM_000350.3:c.1614C>T MANE Select	NP_000341.2:p.Ala538=