Canonical Allele Identifier: CA2601992271
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs2101085623
gnomAD v3: 1-94067608-T-G
gnomAD v4: 1-94067608-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94067608T>G , CM000663.2:g.94067608T>G GRCh38
NC_000001.10:g.94533164T>G , CM000663.1:g.94533164T>G GRCh37
NC_000001.9:g.94305752T>G NCBI36
NG_009073.1:g.58542A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1555-4291A>C MANE Select ENSP00000359245.3:n.1555-4291A>C
ENST00000649773.1:c.1555-4291A>C ENSP00000496882.1:n.1555-4291A>C
ENST00000370225.3:c.1555-4291A>C ENSP00000359245.3:n.1555-4291A>C
NM_000350.2:c.1555-4291A>C NP_000341.2:n.1555-4291A>C
NM_000350.3:c.1555-4291A>C MANE Select NP_000341.2:n.1555-4291A>C
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