Canonical Allele Identifier: CA341283210
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1060150
ClinVar RCV Id: RCV001369536
dbSNP Id: rs2101023150
MyVariant Identifiers: chr1:g.94486950T>C (hg19) chr1:g.94021394T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021394T>C , CM000663.2:g.94021394T>C GRCh38
NC_000001.10:g.94486950T>C , CM000663.1:g.94486950T>C GRCh37
NC_000001.9:g.94259538T>C NCBI36
NG_009073.1:g.104756A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4864A>G MANE Select ENSP00000359245.3:p.Lys1622Glu
ENST00000370225.3:c.4864A>G ENSP00000359245.3:p.Lys1622Glu
ENST00000460514.1:n.358A>G
ENST00000536513.5:c.1240A>G ENSP00000439707.2:p.Lys414Glu
NM_000350.2:c.4864A>G NP_000341.2:p.Lys1622Glu
NM_000350.3:c.4864A>G MANE Select NP_000341.2:p.Lys1622Glu
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