Canonical Allele Identifier: CA957557

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298236
• ClinVar RCV Id: RCV000270263 ; RCV000264287 ; RCV000304270 ; RCV000361271 ; RCV001096333 ; RCV001466055
• dbSNP Id: rs774957381
• ExAC: 1:94490571 G / A
• gnomAD v2: 1-94490571-G-A
• gnomAD v3: 1-94025015-G-A
• gnomAD v4: 1-94025015-G-A
• MyVariant Identifiers: chr1:g.94490571G>A (hg19) ; chr1:g.94025015G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94025015G>A , CM000663.2:g.94025015G>A	GRCh38
NC_000001.10:g.94490571G>A , CM000663.1:g.94490571G>A	GRCh37
NC_000001.9:g.94263159G>A	NCBI36
NG_009073.1:g.101135C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4573C>T MANE Select	ENSP00000359245.3:p.Leu1525=
ENST00000370225.3:c.4573C>T	ENSP00000359245.3:p.Leu1525=
ENST00000460514.1:n.67C>T
ENST00000536513.5:c.949C>T	ENSP00000439707.2:p.Leu317=
NM_000350.2:c.4573C>T	NP_000341.2:p.Leu1525=
NM_000350.3:c.4573C>T MANE Select	NP_000341.2:p.Leu1525=