Canonical Allele Identifier: CA10602430
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94030433C>A
GRCh37 chr1:g.94495989C>A
Revel Score:
ENST00000546054 0.555
ENST00000370225 (MANE Select) 0.555
gnomAD v2:
1:94495989 C / A
gnomAD v4:
chr1-94030433-C-A
Joint Max Group AF 0.00001454 (NFE)
Exomes Max Group AF 0.00001543 (NFE)
ClinVar RCV:
RCV000408520
ClinVar Variation:
236112
dbSNP:
886044741
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030433C>A , CM000663.2:g.94030433C>A GRCh38
NC_000001.10:g.94495989C>A , CM000663.1:g.94495989C>A GRCh37
NC_000001.9:g.94268577C>A NCBI36
NG_009073.1:g.95717G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4347G>T MANE Select ENSP00000359245.3:p.Trp1449Cys
ENST00000370225.3:c.4347G>T ENSP00000359245.3:p.Trp1449Cys
ENST00000536513.5:c.723G>T ENSP00000439707.2:p.Trp241Cys
NM_000350.2:c.4347G>T NP_000341.2:p.Trp1449Cys
NM_000350.3:c.4347G>T MANE Select NP_000341.2:p.Trp1449Cys
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