Canonical Allele Identifier: CA1004558412
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1660183916
gnomAD v3: 1-94030971-G-A
gnomAD v4: 1-94030971-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030971G>A , CM000663.2:g.94030971G>A GRCh38
NC_000001.10:g.94496527G>A , CM000663.1:g.94496527G>A GRCh37
NC_000001.9:g.94269115G>A NCBI36
NG_009073.1:g.95179C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4253+25C>T MANE Select ENSP00000359245.3:n.4253+25C>T
ENST00000370225.3:c.4253+25C>T ENSP00000359245.3:n.4253+25C>T
ENST00000536513.5:c.629+25C>T ENSP00000439707.2:n.629+25C>T
NM_000350.2:c.4253+25C>T NP_000341.2:n.4253+25C>T
NM_000350.3:c.4253+25C>T MANE Select NP_000341.2:n.4253+25C>T
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