Canonical Allele Identifier: CA244968
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94011297A>G
GRCh37 chr1:g.94476853A>G
Revel Score:
ENST00000546054 0.714
ENST00000370225 (MANE Select) 0.714
ENST00000536513 0.714
gnomAD v2:
1:94476853 A / G
gnomAD v3:
1:94011297 A / G
gnomAD v4:
chr1-94011297-A-G
Joint Max Group AF 0.00000124 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000296428
RCV000790718
ClinVar Variation:
197055
dbSNP:
377311148
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011297A>G , CM000663.2:g.94011297A>G GRCh38
NC_000001.10:g.94476853A>G , CM000663.1:g.94476853A>G GRCh37
NC_000001.9:g.94249441A>G NCBI36
NG_009073.1:g.114853T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5549T>C MANE Select ENSP00000359245.3:p.Leu1850Pro
ENST00000370225.3:c.5549T>C ENSP00000359245.3:p.Leu1850Pro
ENST00000536513.5:c.1925T>C ENSP00000439707.2:p.Leu642Pro
NM_000350.2:c.5549T>C NP_000341.2:p.Leu1850Pro
NM_000350.3:c.5549T>C MANE Select NP_000341.2:p.Leu1850Pro
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