Canonical Allele Identifier: CA958400
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs766570903
ExAC: 1:94528152 G / T
gnomAD v2: 1-94528152-G-T
gnomAD v4: 1-94062596-G-T
MyVariant Identifiers: chr1:g.94528152G>T (hg19) chr1:g.94062596G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062596G>T , CM000663.2:g.94062596G>T GRCh38
NC_000001.10:g.94528152G>T , CM000663.1:g.94528152G>T GRCh37
NC_000001.9:g.94300740G>T NCBI36
NG_009073.1:g.63554C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1918C>A MANE Select ENSP00000359245.3:p.Pro640Thr
ENST00000649773.1:c.1918C>A ENSP00000496882.1:p.Pro640Thr
ENST00000370225.3:c.1918C>A ENSP00000359245.3:p.Pro640Thr
ENST00000536513.5:c.-65+578C>A ENSP00000439707.2:n.-65+578C>A
NM_000350.2:c.1918C>A NP_000341.2:p.Pro640Thr
NM_000350.3:c.1918C>A MANE Select NP_000341.2:p.Pro640Thr
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