Canonical Allele Identifier: CA1181418891
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1661168476
gnomAD v4: 1-94062813-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062813C>G , CM000663.2:g.94062813C>G GRCh38
NC_000001.10:g.94528369C>G , CM000663.1:g.94528369C>G GRCh37
NC_000001.9:g.94300957C>G NCBI36
NG_009073.1:g.63337G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1761-60G>C MANE Select ENSP00000359245.3:n.1761-60G>C
ENST00000649773.1:c.1761-60G>C ENSP00000496882.1:n.1761-60G>C
ENST00000370225.3:c.1761-60G>C ENSP00000359245.3:n.1761-60G>C
ENST00000536513.5:c.-65+361G>C ENSP00000439707.2:n.-65+361G>C
NM_000350.2:c.1761-60G>C NP_000341.2:n.1761-60G>C
NM_000350.3:c.1761-60G>C MANE Select NP_000341.2:n.1761-60G>C
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