Canonical Allele Identifier: CA226860
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94080559A>C
GRCh37 chr1:g.94546115A>C
Revel Score:
ENST00000370225 (MANE Select) 0.931
ENST00000535735 0.931
ClinVar RCV:
RCV000008353
RCV000085368
ClinVar Variation:
7896
dbSNP:
61748548
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94080559A>C , CM000663.2:g.94080559A>C GRCh38
NC_000001.10:g.94546115A>C , CM000663.1:g.94546115A>C GRCh37
NC_000001.9:g.94318703A>C NCBI36
NG_009073.1:g.45591T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1018T>G MANE Select ENSP00000359245.3:p.Tyr340Asp
ENST00000649773.1:c.1018T>G ENSP00000496882.1:p.Tyr340Asp
ENST00000370225.3:c.1018T>G ENSP00000359245.3:p.Tyr340Asp
NM_000350.2:c.1018T>G NP_000341.2:p.Tyr340Asp
NM_000350.3:c.1018T>G MANE Select NP_000341.2:p.Tyr340Asp
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