Canonical Allele Identifier: CA1181430001
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1661296178
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94067383G>A , CM000663.2:g.94067383G>A GRCh38
NC_000001.10:g.94532939G>A , CM000663.1:g.94532939G>A GRCh37
NC_000001.9:g.94305527G>A NCBI36
NG_009073.1:g.58767C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1555-4066C>T MANE Select ENSP00000359245.3:n.1555-4066C>T
ENST00000649773.1:c.1555-4066C>T ENSP00000496882.1:n.1555-4066C>T
ENST00000370225.3:c.1555-4066C>T ENSP00000359245.3:n.1555-4066C>T
NM_000350.2:c.1555-4066C>T NP_000341.2:n.1555-4066C>T
NM_000350.3:c.1555-4066C>T MANE Select NP_000341.2:n.1555-4066C>T
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