Canonical Allele Identifier: CA227246
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99326
ClinVar RCV Id: RCV000085679
dbSNP Id: rs61750157
gnomAD v4: 1-94021391-C-T
MyVariant Identifiers: chr1:g.94486947C>T (hg19) chr1:g.94021391C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021391C>T , CM000663.2:g.94021391C>T GRCh38
NC_000001.10:g.94486947C>T , CM000663.1:g.94486947C>T GRCh37
NC_000001.9:g.94259535C>T NCBI36
NG_009073.1:g.104759G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4867G>A MANE Select ENSP00000359245.3:p.Gly1623Ser
ENST00000370225.3:c.4867G>A ENSP00000359245.3:p.Gly1623Ser
ENST00000460514.1:n.361G>A
ENST00000536513.5:c.1243G>A ENSP00000439707.2:p.Gly415Ser
NM_000350.2:c.4867G>A NP_000341.2:p.Gly1623Ser
NM_000350.3:c.4867G>A MANE Select NP_000341.2:p.Gly1623Ser
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