Canonical Allele Identifier: CA1181415016
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1660175080
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030696C>A , CM000663.2:g.94030696C>A GRCh38
NC_000001.10:g.94496252C>A , CM000663.1:g.94496252C>A GRCh37
NC_000001.9:g.94268840C>A NCBI36
NG_009073.1:g.95454G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4254-170G>T MANE Select ENSP00000359245.3:n.4254-170G>T
ENST00000370225.3:c.4254-170G>T ENSP00000359245.3:n.4254-170G>T
ENST00000536513.5:c.630-170G>T ENSP00000439707.2:n.630-170G>T
NM_000350.2:c.4254-170G>T NP_000341.2:n.4254-170G>T
NM_000350.3:c.4254-170G>T MANE Select NP_000341.2:n.4254-170G>T
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