Canonical Allele Identifier: CA341278232
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2705169
ClinVar RCV Id: RCV003575291
MyVariant Identifiers: chr1:g.94467466C>A (hg19) chr1:g.94001910C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001910C>A , CM000663.2:g.94001910C>A GRCh38
NC_000001.10:g.94467466C>A , CM000663.1:g.94467466C>A GRCh37
NC_000001.9:g.94240054C>A NCBI36
NG_009073.1:g.124240G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6230G>T MANE Select ENSP00000359245.3:p.Arg2077Leu
ENST00000370225.3:c.6230G>T ENSP00000359245.3:p.Arg2077Leu
ENST00000465352.1:n.646G>T
ENST00000536513.5:c.2606G>T ENSP00000439707.2:p.Arg869Leu
NM_000350.2:c.6230G>T NP_000341.2:p.Arg2077Leu
NM_000350.3:c.6230G>T MANE Select NP_000341.2:p.Arg2077Leu
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