Canonical Allele Identifier: CA957287

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298228
• ClinVar RCV Id: RCV000262810 ; RCV000302869 ; RCV000355388 ; RCV000403051 ; RCV001099764 ; RCV002059506
• dbSNP Id: rs202199507
• ExAC: 1:94480153 G / A
• gnomAD v2: 1-94480153-G-A
• gnomAD v3: 1-94014597-G-A
• gnomAD v4: 1-94014597-G-A
• MyVariant Identifiers: chr1:g.94480153G>A (hg19) ; chr1:g.94014597G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94014597G>A , CM000663.2:g.94014597G>A	GRCh38
NC_000001.10:g.94480153G>A , CM000663.1:g.94480153G>A	GRCh37
NC_000001.9:g.94252741G>A	NCBI36
NG_009073.1:g.111553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5406C>T MANE Select	ENSP00000359245.3:p.Ile1802=
ENST00000370225.3:c.5406C>T	ENSP00000359245.3:p.Ile1802=
ENST00000536513.5:c.1782C>T	ENSP00000439707.2:p.Ile594=
NM_000350.2:c.5406C>T	NP_000341.2:p.Ile1802=
NM_000350.3:c.5406C>T MANE Select	NP_000341.2:p.Ile1802=