Canonical Allele Identifier: CA1181419837
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1660470151
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94040984A>C , CM000663.2:g.94040984A>C GRCh38
NC_000001.10:g.94506540A>C , CM000663.1:g.94506540A>C GRCh37
NC_000001.9:g.94279128A>C NCBI36
NG_009073.1:g.85166T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3522+225T>G MANE Select ENSP00000359245.3:n.3522+225T>G
ENST00000370225.3:c.3522+225T>G ENSP00000359245.3:n.3522+225T>G
ENST00000536513.5:c.-64-895T>G ENSP00000439707.2:n.-64-895T>G
NM_000350.2:c.3522+225T>G NP_000341.2:n.3522+225T>G
NM_000350.3:c.3522+225T>G MANE Select NP_000341.2:n.3522+225T>G
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