Canonical Allele Identifier: CA227222
Gene: ABCA4 HGNC NCBI
COSMIC:
COSM913446
MyVariant.info:
GRCh38 chr1:g.94024978G>A
GRCh37 chr1:g.94490534G>A
Revel Score:
ENST00000546054 0.934
ENST00000370225 (MANE Select) 0.934
gnomAD v2:
1:94490534 G / A
gnomAD v3:
1:94024978 G / A
gnomAD v4:
chr1-94024978-G-A
Joint Max Group AF 0.00049976 (EAS)
Genomes Max Group AF 0.00026283 (EAS)
Exomes Max Group AF 0.00047985 (EAS)
ClinVar Allele:
105195
ClinVar RCV:
RCV000085659
RCV000408504
RCV001002608
ClinVar Variation:
99306
dbSNP:
62642575
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94024978G>A , CM000663.2:g.94024978G>A GRCh38
NC_000001.10:g.94490534G>A , CM000663.1:g.94490534G>A GRCh37
NC_000001.9:g.94263122G>A NCBI36
NG_009073.1:g.101172C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4610C>T MANE Select ENSP00000359245.3:p.Thr1537Met
ENST00000370225.3:c.4610C>T ENSP00000359245.3:p.Thr1537Met
ENST00000460514.1:n.104C>T
ENST00000536513.5:c.986C>T ENSP00000439707.2:p.Thr329Met
NM_000350.2:c.4610C>T NP_000341.2:p.Thr1537Met
NM_000350.3:c.4610C>T MANE Select NP_000341.2:p.Thr1537Met
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