Canonical Allele Identifier: CA1181407858
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs775520715
gnomAD v4: 1-94011229-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011229G>T , CM000663.2:g.94011229G>T GRCh38
NC_000001.10:g.94476785G>T , CM000663.1:g.94476785G>T GRCh37
NC_000001.9:g.94249373G>T NCBI36
NG_009073.1:g.114921C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5584+33C>A MANE Select ENSP00000359245.3:n.5584+33C>A
ENST00000370225.3:c.5584+33C>A ENSP00000359245.3:n.5584+33C>A
ENST00000536513.5:c.1960+33C>A ENSP00000439707.2:n.1960+33C>A
NM_000350.2:c.5584+33C>A NP_000341.2:n.5584+33C>A
NM_000350.3:c.5584+33C>A MANE Select NP_000341.2:n.5584+33C>A
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