Canonical Allele Identifier: CA957147
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs748693912
ExAC: 1:94476199 T / A
gnomAD v4: 1-94010643-T-A
MyVariant Identifiers: chr1:g.94476199T>A (hg19) chr1:g.94010643T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94010643T>A , CM000663.2:g.94010643T>A GRCh38
NC_000001.10:g.94476199T>A , CM000663.1:g.94476199T>A GRCh37
NC_000001.9:g.94248787T>A NCBI36
NG_009073.1:g.115507A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5714+157A>T MANE Select ENSP00000359245.3:n.5714+157A>T
ENST00000370225.3:c.5714+157A>T ENSP00000359245.3:n.5714+157A>T
ENST00000465352.1:n.130+157A>T
ENST00000536513.5:c.2090+157A>T ENSP00000439707.2:n.2090+157A>T
NM_000350.2:c.5714+157A>T NP_000341.2:n.5714+157A>T
NM_000350.3:c.5714+157A>T MANE Select NP_000341.2:n.5714+157A>T
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