Canonical Allele Identifier: CA2646645471
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs2100995869
gnomAD v4: 1-94002093-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94002093G>A , CM000663.2:g.94002093G>A GRCh38
NC_000001.10:g.94467649G>A , CM000663.1:g.94467649G>A GRCh37
NC_000001.9:g.94240237G>A NCBI36
NG_009073.1:g.124057C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6148-101C>T MANE Select ENSP00000359245.3:n.6148-101C>T
ENST00000370225.3:c.6148-101C>T ENSP00000359245.3:n.6148-101C>T
ENST00000465352.1:n.564-101C>T
ENST00000536513.5:c.2524-101C>T ENSP00000439707.2:n.2524-101C>T
NM_000350.2:c.6148-101C>T NP_000341.2:n.6148-101C>T
NM_000350.3:c.6148-101C>T MANE Select NP_000341.2:n.6148-101C>T
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