Canonical Allele Identifier: CA957102
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs560189560
ExAC: 1:94473876 A / G
gnomAD v2: 1-94473876-A-G
gnomAD v3: 1-94008320-A-G
gnomAD v4: 1-94008320-A-G
MyVariant Identifiers: chr1:g.94473876A>G (hg19) chr1:g.94008320A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008320A>G , CM000663.2:g.94008320A>G GRCh38
NC_000001.10:g.94473876A>G , CM000663.1:g.94473876A>G GRCh37
NC_000001.9:g.94246464A>G NCBI36
NG_009073.1:g.117830T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5836-23T>C MANE Select ENSP00000359245.3:n.5836-23T>C
ENST00000370225.3:c.5836-23T>C ENSP00000359245.3:n.5836-23T>C
ENST00000465352.1:n.252-23T>C
ENST00000536513.5:c.2212-23T>C ENSP00000439707.2:n.2212-23T>C
NM_000350.2:c.5836-23T>C NP_000341.2:n.5836-23T>C
NM_000350.3:c.5836-23T>C MANE Select NP_000341.2:n.5836-23T>C
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