Canonical Allele Identifier: CA1004544083
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1659207810
gnomAD v3: 1-94002142-G-C
gnomAD v4: 1-94002142-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94002142G>C , CM000663.2:g.94002142G>C GRCh38
NC_000001.10:g.94467698G>C , CM000663.1:g.94467698G>C GRCh37
NC_000001.9:g.94240286G>C NCBI36
NG_009073.1:g.124008C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6148-150C>G MANE Select ENSP00000359245.3:n.6148-150C>G
ENST00000370225.3:c.6148-150C>G ENSP00000359245.3:n.6148-150C>G
ENST00000465352.1:n.564-150C>G
ENST00000536513.5:c.2524-150C>G ENSP00000439707.2:n.2524-150C>G
NM_000350.2:c.6148-150C>G NP_000341.2:n.6148-150C>G
NM_000350.3:c.6148-150C>G MANE Select NP_000341.2:n.6148-150C>G
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