Canonical Allele Identifier: CA957423
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1116074
ClinVar RCV Id: RCV001444299
dbSNP Id: rs763852420
ExAC: 1:94486867 G / A
gnomAD v2: 1-94486867-G-A
gnomAD v3: 1-94021311-G-A
gnomAD v4: 1-94021311-G-A
COSMIC: COSM3966808
MyVariant Identifiers: chr1:g.94486867G>A (hg19) chr1:g.94021311G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021311G>A , CM000663.2:g.94021311G>A GRCh38
NC_000001.10:g.94486867G>A , CM000663.1:g.94486867G>A GRCh37
NC_000001.9:g.94259455G>A NCBI36
NG_009073.1:g.104839C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4947C>T MANE Select ENSP00000359245.3:p.Pro1649=
ENST00000370225.3:c.4947C>T ENSP00000359245.3:p.Pro1649=
ENST00000460514.1:n.441C>T
ENST00000470771.1:n.57C>T
ENST00000536513.5:c.1323C>T ENSP00000439707.2:p.Pro441=
NM_000350.2:c.4947C>T NP_000341.2:p.Pro1649=
NM_000350.3:c.4947C>T MANE Select NP_000341.2:p.Pro1649=
Search 100 bp 5'
Search 100 bp 3'