Canonical Allele Identifier: CA341278997
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94005490A>G
GRCh37 chr1:g.94471046A>G
Revel Score:
ENST00000546054 0.974
ENST00000370225 (MANE Select) 0.974
ENST00000536513 0.974
ENST00000535881 0.974
ClinVar RCV:
RCV000504985
ClinVar Variation:
438104
dbSNP:
1553186896
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94005490A>G , CM000663.2:g.94005490A>G GRCh38
NC_000001.10:g.94471046A>G , CM000663.1:g.94471046A>G GRCh37
NC_000001.9:g.94243634A>G NCBI36
NG_009073.1:g.120660T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6098T>C MANE Select ENSP00000359245.3:p.Leu2033Pro
ENST00000370225.3:c.6098T>C ENSP00000359245.3:p.Leu2033Pro
ENST00000465352.1:n.514T>C
ENST00000484388.1:n.212T>C
ENST00000536513.5:c.2474T>C ENSP00000439707.2:p.Leu825Pro
NM_000350.2:c.6098T>C NP_000341.2:p.Leu2033Pro
NM_000350.3:c.6098T>C MANE Select NP_000341.2:p.Leu2033Pro
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