Canonical Allele Identifier: CA227394
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94001049G>C
GRCh37 chr1:g.94466605G>C
Revel Score:
ENST00000546054 0.760
ENST00000370225 (MANE Select) 0.760
ENST00000536513 0.760
ENST00000535881 0.760
ClinVar RCV:
RCV000085810
ClinVar Variation:
99451
dbSNP:
61750649
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001049G>C , CM000663.2:g.94001049G>C GRCh38
NC_000001.10:g.94466605G>C , CM000663.1:g.94466605G>C GRCh37
NC_000001.9:g.94239193G>C NCBI36
NG_009073.1:g.125101C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6339C>G MANE Select ENSP00000359245.3:p.Ile2113Met
ENST00000370225.3:c.6339C>G ENSP00000359245.3:p.Ile2113Met
ENST00000536513.5:c.2715C>G ENSP00000439707.2:p.Ile905Met
NM_000350.2:c.6339C>G NP_000341.2:p.Ile2113Met
NM_000350.3:c.6339C>G MANE Select NP_000341.2:p.Ile2113Met
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