Canonical Allele Identifier: CA957658
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs534072417
ExAC: 1:94496048 G / A
gnomAD v2: 1-94496048-G-A
gnomAD v3: 1-94030492-G-A
gnomAD v4: 1-94030492-G-A
MyVariant Identifiers: chr1:g.94496048G>A (hg19) chr1:g.94030492G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030492G>A , CM000663.2:g.94030492G>A GRCh38
NC_000001.10:g.94496048G>A , CM000663.1:g.94496048G>A GRCh37
NC_000001.9:g.94268636G>A NCBI36
NG_009073.1:g.95658C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4288C>T MANE Select ENSP00000359245.3:p.Leu1430Phe
ENST00000370225.3:c.4288C>T ENSP00000359245.3:p.Leu1430Phe
ENST00000536513.5:c.664C>T ENSP00000439707.2:p.Leu222Phe
NM_000350.2:c.4288C>T NP_000341.2:p.Leu1430Phe
NM_000350.3:c.4288C>T MANE Select NP_000341.2:p.Leu1430Phe
Search 100 bp 5'
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