Canonical Allele Identifier: CA1181447763
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1662597776
gnomAD v4: 1-94111379-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111379T>G , CM000663.2:g.94111379T>G GRCh38
NC_000001.10:g.94576935T>G , CM000663.1:g.94576935T>G GRCh37
NC_000001.9:g.94349523T>G NCBI36
NG_009073.1:g.14771A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.302+59A>C MANE Select ENSP00000359245.3:n.302+59A>C
ENST00000649773.1:c.302+59A>C ENSP00000496882.1:n.302+59A>C
ENST00000370225.3:c.302+59A>C ENSP00000359245.3:n.302+59A>C
NM_000350.2:c.302+59A>C NP_000341.2:n.302+59A>C
NM_000350.3:c.302+59A>C MANE Select NP_000341.2:n.302+59A>C
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