Canonical Allele Identifier: CA957442
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1532676
ClinVar RCV Id: RCV002102150
dbSNP Id: rs372461600
ExAC: 1:94486973 G / A
gnomAD v2: 1-94486973-G-A
gnomAD v3: 1-94021417-G-A
gnomAD v4: 1-94021417-G-A
MyVariant Identifiers: chr1:g.94486973G>A (hg19) chr1:g.94021417G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021417G>A , CM000663.2:g.94021417G>A GRCh38
NC_000001.10:g.94486973G>A , CM000663.1:g.94486973G>A GRCh37
NC_000001.9:g.94259561G>A NCBI36
NG_009073.1:g.104733C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4849-8C>T MANE Select ENSP00000359245.3:n.4849-8C>T
ENST00000370225.3:c.4849-8C>T ENSP00000359245.3:n.4849-8C>T
ENST00000460514.1:n.343-8C>T
ENST00000536513.5:c.1225-8C>T ENSP00000439707.2:n.1225-8C>T
NM_000350.2:c.4849-8C>T NP_000341.2:n.4849-8C>T
NM_000350.3:c.4849-8C>T MANE Select NP_000341.2:n.4849-8C>T
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