Canonical Allele Identifier: CA958147
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs771000047
ExAC: 1:94512575 G / A
gnomAD v2: 1-94512575-G-A
gnomAD v4: 1-94047019-G-A
MyVariant Identifiers: chr1:g.94512575G>A (hg19) chr1:g.94047019G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047019G>A , CM000663.2:g.94047019G>A GRCh38
NC_000001.10:g.94512575G>A , CM000663.1:g.94512575G>A GRCh37
NC_000001.9:g.94285163G>A NCBI36
NG_009073.1:g.79131C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2818C>T MANE Select ENSP00000359245.3:p.Pro940Ser
ENST00000649773.1:c.2596C>T ENSP00000496882.1:p.Pro866Ser
ENST00000370225.3:c.2818C>T ENSP00000359245.3:p.Pro940Ser
ENST00000536513.5:c.-64-6930C>T ENSP00000439707.2:n.-64-6930C>T
NM_000350.2:c.2818C>T NP_000341.2:p.Pro940Ser
NM_000350.3:c.2818C>T MANE Select NP_000341.2:p.Pro940Ser
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