Canonical Allele Identifier: CA957085

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 507729
• ClinVar RCV Id: RCV000609895 ; RCV001397398
• dbSNP Id: rs761429989
• ExAC: 1:94473771 G / A
• gnomAD v2: 1-94473771-G-A
• gnomAD v3: 1-94008215-G-A
• gnomAD v4: 1-94008215-G-A
• MyVariant Identifiers: chr1:g.94473771G>A (hg19) ; chr1:g.94008215G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94008215G>A , CM000663.2:g.94008215G>A	GRCh38
NC_000001.10:g.94473771G>A , CM000663.1:g.94473771G>A	GRCh37
NC_000001.9:g.94246359G>A	NCBI36
NG_009073.1:g.117935C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5898+20C>T MANE Select	ENSP00000359245.3:n.5898+20C>T
ENST00000370225.3:c.5898+20C>T	ENSP00000359245.3:n.5898+20C>T
ENST00000465352.1:n.314+20C>T
ENST00000536513.5:c.2274+20C>T	ENSP00000439707.2:n.2274+20C>T
NM_000350.2:c.5898+20C>T	NP_000341.2:n.5898+20C>T
NM_000350.3:c.5898+20C>T MANE Select	NP_000341.2:n.5898+20C>T