Canonical Allele Identifier: CA957453
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs369795000
ExAC: 1:94487147 G / C
gnomAD v2: 1-94487147-G-C
gnomAD v3: 1-94021591-G-C
gnomAD v4: 1-94021591-G-C
MyVariant Identifiers: chr1:g.94487147G>C (hg19) chr1:g.94021591G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021591G>C , CM000663.2:g.94021591G>C GRCh38
NC_000001.10:g.94487147G>C , CM000663.1:g.94487147G>C GRCh37
NC_000001.9:g.94259735G>C NCBI36
NG_009073.1:g.104559C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4848+49C>G MANE Select ENSP00000359245.3:n.4848+49C>G
ENST00000370225.3:c.4848+49C>G ENSP00000359245.3:n.4848+49C>G
ENST00000460514.1:n.342+49C>G
ENST00000536513.5:c.1224+49C>G ENSP00000439707.2:n.1224+49C>G
NM_000350.2:c.4848+49C>G NP_000341.2:n.4848+49C>G
NM_000350.3:c.4848+49C>G MANE Select NP_000341.2:n.4848+49C>G
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