Canonical Allele Identifier: CA958397
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1998012
ClinVar RCV Id: RCV002792062
dbSNP Id: rs61749418
ExAC: 1:94528137 C / A
gnomAD v2: 1-94528137-C-A
gnomAD v3: 1-94062581-C-A
gnomAD v4: 1-94062581-C-A
MyVariant Identifiers: chr1:g.94528137C>A (hg19) chr1:g.94062581C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062581C>A , CM000663.2:g.94062581C>A GRCh38
NC_000001.10:g.94528137C>A , CM000663.1:g.94528137C>A GRCh37
NC_000001.9:g.94300725C>A NCBI36
NG_009073.1:g.63569G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1933G>T MANE Select ENSP00000359245.3:p.Asp645Tyr
ENST00000649773.1:c.1933G>T ENSP00000496882.1:p.Asp645Tyr
ENST00000370225.3:c.1933G>T ENSP00000359245.3:p.Asp645Tyr
ENST00000536513.5:c.-65+593G>T ENSP00000439707.2:n.-65+593G>T
NM_000350.2:c.1933G>T NP_000341.2:p.Asp645Tyr
NM_000350.3:c.1933G>T MANE Select NP_000341.2:p.Asp645Tyr
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