Canonical Allele Identifier: CA1004558163
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1660172897
gnomAD v3: 1-94030609-T-G
gnomAD v4: 1-94030609-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030609T>G , CM000663.2:g.94030609T>G GRCh38
NC_000001.10:g.94496165T>G , CM000663.1:g.94496165T>G GRCh37
NC_000001.9:g.94268753T>G NCBI36
NG_009073.1:g.95541A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4254-83A>C MANE Select ENSP00000359245.3:n.4254-83A>C
ENST00000370225.3:c.4254-83A>C ENSP00000359245.3:n.4254-83A>C
ENST00000536513.5:c.630-83A>C ENSP00000439707.2:n.630-83A>C
NM_000350.2:c.4254-83A>C NP_000341.2:n.4254-83A>C
NM_000350.3:c.4254-83A>C MANE Select NP_000341.2:n.4254-83A>C
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