Canonical Allele Identifier: CA958350
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3027958
ClinVar RCV Id: RCV003891212
dbSNP Id: rs754874649
ExAC: 1:94526130 A / T
gnomAD v2: 1-94526130-A-T
gnomAD v4: 1-94060574-A-T
MyVariant Identifiers: chr1:g.94526130A>T (hg19) chr1:g.94060574A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060574A>T , CM000663.2:g.94060574A>T GRCh38
NC_000001.10:g.94526130A>T , CM000663.1:g.94526130A>T GRCh37
NC_000001.9:g.94298718A>T NCBI36
NG_009073.1:g.65576T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2123T>A MANE Select ENSP00000359245.3:p.Met708Lys
ENST00000649773.1:c.2123T>A ENSP00000496882.1:p.Met708Lys
ENST00000370225.3:c.2123T>A ENSP00000359245.3:p.Met708Lys
ENST00000472033.1:n.243T>A
ENST00000536513.5:c.-65+2600T>A ENSP00000439707.2:n.-65+2600T>A
NM_000350.2:c.2123T>A NP_000341.2:p.Met708Lys
NM_000350.3:c.2123T>A MANE Select NP_000341.2:p.Met708Lys
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