Canonical Allele Identifier: CA2573132678
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1570906
ClinVar RCV Id: RCV002205742
dbSNP Id: rs2100995743
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94002002A>G , CM000663.2:g.94002002A>G GRCh38
NC_000001.10:g.94467558A>G , CM000663.1:g.94467558A>G GRCh37
NC_000001.9:g.94240146A>G NCBI36
NG_009073.1:g.124148T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6148-10T>C MANE Select ENSP00000359245.3:n.6148-10T>C
ENST00000370225.3:c.6148-10T>C ENSP00000359245.3:n.6148-10T>C
ENST00000465352.1:n.564-10T>C
ENST00000536513.5:c.2524-10T>C ENSP00000439707.2:n.2524-10T>C
NM_000350.2:c.6148-10T>C NP_000341.2:n.6148-10T>C
NM_000350.3:c.6148-10T>C MANE Select NP_000341.2:n.6148-10T>C
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