Canonical Allele Identifier: CA10602404
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.93997877T>C
GRCh37 chr1:g.94463433T>C
Revel Score:
ENST00000546054 0.842
ENST00000370225 (MANE Select) 0.842
ENST00000536513 0.842
ENST00000535881 0.842
ClinVar RCV:
RCV000408503
ClinVar Variation:
236150
dbSNP:
886044764
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997877T>C , CM000663.2:g.93997877T>C GRCh38
NC_000001.10:g.94463433T>C , CM000663.1:g.94463433T>C GRCh37
NC_000001.9:g.94236021T>C NCBI36
NG_009073.1:g.128273A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6713A>G MANE Select ENSP00000359245.3:p.Gln2238Arg
ENST00000370225.3:c.6713A>G ENSP00000359245.3:p.Gln2238Arg
ENST00000536513.5:c.3089A>G ENSP00000439707.2:p.Gln1030Arg
NM_000350.2:c.6713A>G NP_000341.2:p.Gln2238Arg
NM_000350.3:c.6713A>G MANE Select NP_000341.2:p.Gln2238Arg
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