Canonical Allele Identifier: CA740488993
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1169936649
gnomAD v3: 1-94021476-A-T
gnomAD v4: 1-94021476-A-T
MyVariant Identifiers: chr1:g.94487032A>T (hg19) chr1:g.94021476A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021476A>T , CM000663.2:g.94021476A>T GRCh38
NC_000001.10:g.94487032A>T , CM000663.1:g.94487032A>T GRCh37
NC_000001.9:g.94259620A>T NCBI36
NG_009073.1:g.104674T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4849-67T>A MANE Select ENSP00000359245.3:n.4849-67T>A
ENST00000370225.3:c.4849-67T>A ENSP00000359245.3:n.4849-67T>A
ENST00000460514.1:n.343-67T>A
ENST00000536513.5:c.1225-67T>A ENSP00000439707.2:n.1225-67T>A
NM_000350.2:c.4849-67T>A NP_000341.2:n.4849-67T>A
NM_000350.3:c.4849-67T>A MANE Select NP_000341.2:n.4849-67T>A
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