Canonical Allele Identifier: CA418821793
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3012839
ClinVar RCV Id: RCV003877950
dbSNP Id: rs1215325818
gnomAD v2: 1-94528144-G-A
gnomAD v4: 1-94062588-G-A
MyVariant Identifiers: chr1:g.94528144G>A (hg19) chr1:g.94062588G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062588G>A , CM000663.2:g.94062588G>A GRCh38
NC_000001.10:g.94528144G>A , CM000663.1:g.94528144G>A GRCh37
NC_000001.9:g.94300732G>A NCBI36
NG_009073.1:g.63562C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.1926C>T MANE Select ENSP00000359245.3:p.Phe642=
ENST00000649773.1:c.1926C>T ENSP00000496882.1:p.Phe642=
ENST00000370225.3:c.1926C>T ENSP00000359245.3:p.Phe642=
ENST00000536513.5:c.-65+586C>T ENSP00000439707.2:n.-65+586C>T
NM_000350.2:c.1926C>T NP_000341.2:p.Phe642=
NM_000350.3:c.1926C>T MANE Select NP_000341.2:p.Phe642=
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