Canonical Allele Identifier: CA418821542
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94060654-T-A
MyVariant Identifiers: chr1:g.94526210T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060654T>A , CM000663.2:g.94060654T>A GRCh38
NC_000001.10:g.94526210T>A , CM000663.1:g.94526210T>A GRCh37
NC_000001.9:g.94298798T>A NCBI36
NG_009073.1:g.65496A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2043A>T MANE Select ENSP00000359245.3:p.Arg681=
ENST00000649773.1:c.2043A>T ENSP00000496882.1:p.Arg681=
ENST00000370225.3:c.2043A>T ENSP00000359245.3:p.Arg681=
ENST00000472033.1:n.163A>T
ENST00000536513.5:c.-65+2520A>T ENSP00000439707.2:n.-65+2520A>T
NM_000350.2:c.2043A>T NP_000341.2:p.Arg681=
NM_000350.3:c.2043A>T MANE Select NP_000341.2:p.Arg681=
Search 100 bp 5'
Search 100 bp 3'