Canonical Allele Identifier: CA10602418
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94011334G>T
GRCh37 chr1:g.94476890G>T
Revel Score:
ENST00000546054 0.707
ENST00000370225 (MANE Select) 0.707
ENST00000536513 0.707
ClinVar RCV:
RCV000408514
RCV003556287
ClinVar Variation:
236133
dbSNP:
62642562
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011334G>T , CM000663.2:g.94011334G>T GRCh38
NC_000001.10:g.94476890G>T , CM000663.1:g.94476890G>T GRCh37
NC_000001.9:g.94249478G>T NCBI36
NG_009073.1:g.114816C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5512C>A MANE Select ENSP00000359245.3:p.His1838Asn
ENST00000370225.3:c.5512C>A ENSP00000359245.3:p.His1838Asn
ENST00000536513.5:c.1888C>A ENSP00000439707.2:p.His630Asn
NM_000350.2:c.5512C>A NP_000341.2:p.His1838Asn
NM_000350.3:c.5512C>A MANE Select NP_000341.2:p.His1838Asn
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