Canonical Allele Identifier: CA956989
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs778066205
ExAC: 1:94467487 G / A
gnomAD v2: 1-94467487-G-A
gnomAD v4: 1-94001931-G-A
MyVariant Identifiers: chr1:g.94467487G>A (hg19) chr1:g.94001931G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001931G>A , CM000663.2:g.94001931G>A GRCh38
NC_000001.10:g.94467487G>A , CM000663.1:g.94467487G>A GRCh37
NC_000001.9:g.94240075G>A NCBI36
NG_009073.1:g.124219C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6209C>T MANE Select ENSP00000359245.3:p.Thr2070Met
ENST00000370225.3:c.6209C>T ENSP00000359245.3:p.Thr2070Met
ENST00000465352.1:n.625C>T
ENST00000536513.5:c.2585C>T ENSP00000439707.2:p.Thr862Met
NM_000350.2:c.6209C>T NP_000341.2:p.Thr2070Met
NM_000350.3:c.6209C>T MANE Select NP_000341.2:p.Thr2070Met
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