Canonical Allele Identifier: CA10602417
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94011333T>C
GRCh37 chr1:g.94476889T>C
Revel Score:
ENST00000546054 0.933
ENST00000370225 (MANE Select) 0.933
ENST00000536513 0.933
ClinVar RCV:
RCV000408470
RCV001854787
ClinVar Variation:
236134
dbSNP:
886044752
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011333T>C , CM000663.2:g.94011333T>C GRCh38
NC_000001.10:g.94476889T>C , CM000663.1:g.94476889T>C GRCh37
NC_000001.9:g.94249477T>C NCBI36
NG_009073.1:g.114817A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5513A>G MANE Select ENSP00000359245.3:p.His1838Arg
ENST00000370225.3:c.5513A>G ENSP00000359245.3:p.His1838Arg
ENST00000536513.5:c.1889A>G ENSP00000439707.2:p.His630Arg
NM_000350.2:c.5513A>G NP_000341.2:p.His1838Arg
NM_000350.3:c.5513A>G MANE Select NP_000341.2:p.His1838Arg
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