Canonical Allele Identifier: CA341278912
Gene: ABCA4 HGNC NCBI

Linked Data

COSMIC: COSM5574366 COSM5574367
MyVariant Identifiers: chr1:g.94526296G>C (hg19) chr1:g.94060740G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060740G>C , CM000663.2:g.94060740G>C GRCh38
NC_000001.10:g.94526296G>C , CM000663.1:g.94526296G>C GRCh37
NC_000001.9:g.94298884G>C NCBI36
NG_009073.1:g.65410C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1957C>G MANE Select ENSP00000359245.3:p.Arg653Gly
ENST00000649773.1:c.1957C>G ENSP00000496882.1:p.Arg653Gly
ENST00000370225.3:c.1957C>G ENSP00000359245.3:p.Arg653Gly
ENST00000472033.1:n.77C>G
ENST00000536513.5:c.-65+2434C>G ENSP00000439707.2:n.-65+2434C>G
NM_000350.2:c.1957C>G NP_000341.2:p.Arg653Gly
NM_000350.3:c.1957C>G MANE Select NP_000341.2:p.Arg653Gly
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