Canonical Allele Identifier: CA10602406
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.93998075T>C
GRCh37 chr1:g.94463631T>C
Revel Score:
ENST00000546054 0.576
ENST00000370225 (MANE Select) 0.576
ENST00000536513 0.576
ENST00000535881 0.576
gnomAD v4:
chr1-93998075-T-C
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000408595
RCV001854788
ClinVar Variation:
236148
dbSNP:
886044762
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93998075T>C , CM000663.2:g.93998075T>C GRCh38
NC_000001.10:g.94463631T>C , CM000663.1:g.94463631T>C GRCh37
NC_000001.9:g.94236219T>C NCBI36
NG_009073.1:g.128075A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6515A>G MANE Select ENSP00000359245.3:p.Lys2172Arg
ENST00000370225.3:c.6515A>G ENSP00000359245.3:p.Lys2172Arg
ENST00000536513.5:c.2891A>G ENSP00000439707.2:p.Lys964Arg
NM_000350.2:c.6515A>G NP_000341.2:p.Lys2172Arg
NM_000350.3:c.6515A>G MANE Select NP_000341.2:p.Lys2172Arg
Search 100 bp 5'
Search 100 bp 3'