Canonical Allele Identifier: CA341281507
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94014676G>A
GRCh37 chr1:g.94480232G>A
Revel Score:
ENST00000546054 0.864
ENST00000370225 (MANE Select) 0.864
ENST00000536513 0.864
ClinVar RCV:
RCV000497807
RCV003324528
ClinVar Variation:
431947
dbSNP:
1553187939
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94014676G>A , CM000663.2:g.94014676G>A GRCh38
NC_000001.10:g.94480232G>A , CM000663.1:g.94480232G>A GRCh37
NC_000001.9:g.94252820G>A NCBI36
NG_009073.1:g.111474C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5327C>T MANE Select ENSP00000359245.3:p.Pro1776Leu
ENST00000370225.3:c.5327C>T ENSP00000359245.3:p.Pro1776Leu
ENST00000536513.5:c.1703C>T ENSP00000439707.2:p.Pro568Leu
NM_000350.2:c.5327C>T NP_000341.2:p.Pro1776Leu
NM_000350.3:c.5327C>T MANE Select NP_000341.2:p.Pro1776Leu
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