Canonical Allele Identifier: CA341279128
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1512870
ClinVar RCV Id: RCV002045763
dbSNP Id: rs2101077991
MyVariant Identifiers: chr1:g.94528136T>C (hg19) chr1:g.94062580T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062580T>C , CM000663.2:g.94062580T>C GRCh38
NC_000001.10:g.94528136T>C , CM000663.1:g.94528136T>C GRCh37
NC_000001.9:g.94300724T>C NCBI36
NG_009073.1:g.63570A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1934A>G MANE Select ENSP00000359245.3:p.Asp645Gly
ENST00000649773.1:c.1934A>G ENSP00000496882.1:p.Asp645Gly
ENST00000370225.3:c.1934A>G ENSP00000359245.3:p.Asp645Gly
ENST00000536513.5:c.-65+594A>G ENSP00000439707.2:n.-65+594A>G
NM_000350.2:c.1934A>G NP_000341.2:p.Asp645Gly
NM_000350.3:c.1934A>G MANE Select NP_000341.2:p.Asp645Gly
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