Canonical Allele Identifier: CA10588919
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94014670A>T
GRCh37 chr1:g.94480226A>T
Revel Score:
ENST00000546054 0.939
ENST00000370225 (MANE Select) 0.939
ENST00000536513 0.939
ClinVar RCV:
RCV000256375
RCV001859496
ClinVar Variation:
265997
dbSNP:
748706582
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94014670A>T , CM000663.2:g.94014670A>T GRCh38
NC_000001.10:g.94480226A>T , CM000663.1:g.94480226A>T GRCh37
NC_000001.9:g.94252814A>T NCBI36
NG_009073.1:g.111480T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5333T>A MANE Select ENSP00000359245.3:p.Met1778Lys
ENST00000370225.3:c.5333T>A ENSP00000359245.3:p.Met1778Lys
ENST00000536513.5:c.1709T>A ENSP00000439707.2:p.Met570Lys
NM_000350.2:c.5333T>A NP_000341.2:p.Met1778Lys
NM_000350.3:c.5333T>A MANE Select NP_000341.2:p.Met1778Lys
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