Canonical Allele Identifier: CA341281486
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94014665G>A
GRCh37 chr1:g.94480221G>A
Revel Score:
ENST00000546054 0.830
ENST00000370225 (MANE Select) 0.830
ENST00000536513 0.830
ClinVar Allele:
3543845
ClinVar RCV:
RCV004799834
ClinVar Variation:
3384698
dbSNP:
121909207
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94014665G>A , CM000663.2:g.94014665G>A GRCh38
NC_000001.10:g.94480221G>A , CM000663.1:g.94480221G>A GRCh37
NC_000001.9:g.94252809G>A NCBI36
NG_009073.1:g.111485C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5338C>T MANE Select ENSP00000359245.3:p.Pro1780Ser
ENST00000370225.3:c.5338C>T ENSP00000359245.3:p.Pro1780Ser
ENST00000536513.5:c.1714C>T ENSP00000439707.2:p.Pro572Ser
NM_000350.2:c.5338C>T NP_000341.2:p.Pro1780Ser
NM_000350.3:c.5338C>T MANE Select NP_000341.2:p.Pro1780Ser
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