Canonical Allele Identifier: CA2646649719
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2830974
ClinVar RCV Id: RCV003678927
gnomAD v4: 1-94043320-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043320A>G , CM000663.2:g.94043320A>G GRCh38
NC_000001.10:g.94508876A>G , CM000663.1:g.94508876A>G GRCh37
NC_000001.9:g.94281464A>G NCBI36
NG_009073.1:g.82830T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3190+16T>C MANE Select ENSP00000359245.3:n.3190+16T>C
ENST00000370225.3:c.3190+16T>C ENSP00000359245.3:n.3190+16T>C
ENST00000536513.5:c.-64-3231T>C ENSP00000439707.2:n.-64-3231T>C
NM_000350.2:c.3190+16T>C NP_000341.2:n.3190+16T>C
NM_000350.3:c.3190+16T>C MANE Select NP_000341.2:n.3190+16T>C
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