Canonical Allele Identifier: CA957420
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1609432
ClinVar RCV Id: RCV002150295 RCV003889059
dbSNP Id: rs764946227
ExAC: 1:94486849 G / A
gnomAD v2: 1-94486849-G-A
gnomAD v3: 1-94021293-G-A
gnomAD v4: 1-94021293-G-A
MyVariant Identifiers: chr1:g.94486849G>A (hg19) chr1:g.94021293G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021293G>A , CM000663.2:g.94021293G>A GRCh38
NC_000001.10:g.94486849G>A , CM000663.1:g.94486849G>A GRCh37
NC_000001.9:g.94259437G>A NCBI36
NG_009073.1:g.104857C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4965C>T MANE Select ENSP00000359245.3:p.Thr1655=
ENST00000370225.3:c.4965C>T ENSP00000359245.3:p.Thr1655=
ENST00000460514.1:n.459C>T
ENST00000470771.1:n.75C>T
ENST00000536513.5:c.1341C>T ENSP00000439707.2:p.Thr447=
NM_000350.2:c.4965C>T NP_000341.2:p.Thr1655=
NM_000350.3:c.4965C>T MANE Select NP_000341.2:p.Thr1655=
Search 100 bp 5'
Search 100 bp 3'