Canonical Allele Identifier: CA957587
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 502047
ClinVar RCV Id: RCV000596575 RCV004024837
dbSNP Id: rs756106154
ExAC: 1:94495011 G / A
gnomAD v2: 1-94495011-G-A
gnomAD v3: 1-94029455-G-A
gnomAD v4: 1-94029455-G-A
MyVariant Identifiers: chr1:g.94495011G>A (hg19) chr1:g.94029455G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029455G>A , CM000663.2:g.94029455G>A GRCh38
NC_000001.10:g.94495011G>A , CM000663.1:g.94495011G>A GRCh37
NC_000001.9:g.94267599G>A NCBI36
NG_009073.1:g.96695C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4529C>T MANE Select ENSP00000359245.3:p.Pro1510Leu
ENST00000370225.3:c.4529C>T ENSP00000359245.3:p.Pro1510Leu
ENST00000536513.5:c.905C>T ENSP00000439707.2:p.Pro302Leu
NM_000350.2:c.4529C>T NP_000341.2:p.Pro1510Leu
NM_000350.3:c.4529C>T MANE Select NP_000341.2:p.Pro1510Leu
Search 100 bp 5'
Search 100 bp 3'