Canonical Allele Identifier: CA1004564390
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1662613710
gnomAD v3: 1-94111850-G-T
gnomAD v4: 1-94111850-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111850G>T , CM000663.2:g.94111850G>T GRCh38
NC_000001.10:g.94577406G>T , CM000663.1:g.94577406G>T GRCh37
NC_000001.9:g.94349994G>T NCBI36
NG_009073.1:g.14300C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.161-271C>A MANE Select ENSP00000359245.3:n.161-271C>A
ENST00000649773.1:c.161-271C>A ENSP00000496882.1:n.161-271C>A
ENST00000370225.3:c.161-271C>A ENSP00000359245.3:n.161-271C>A
NM_000350.2:c.161-271C>A NP_000341.2:n.161-271C>A
NM_000350.3:c.161-271C>A MANE Select NP_000341.2:n.161-271C>A
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