Canonical Allele Identifier: CA341283110
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2247525
ClinVar RCV Id: RCV002748397
gnomAD v4: 1-94021349-C-A
MyVariant Identifiers: chr1:g.94486905C>A (hg19) chr1:g.94021349C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021349C>A , CM000663.2:g.94021349C>A GRCh38
NC_000001.10:g.94486905C>A , CM000663.1:g.94486905C>A GRCh37
NC_000001.9:g.94259493C>A NCBI36
NG_009073.1:g.104801G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4909G>T MANE Select ENSP00000359245.3:p.Ala1637Ser
ENST00000370225.3:c.4909G>T ENSP00000359245.3:p.Ala1637Ser
ENST00000460514.1:n.403G>T
ENST00000470771.1:n.19G>T
ENST00000536513.5:c.1285G>T ENSP00000439707.2:p.Ala429Ser
NM_000350.2:c.4909G>T NP_000341.2:p.Ala1637Ser
NM_000350.3:c.4909G>T MANE Select NP_000341.2:p.Ala1637Ser
Search 100 bp 5'
Search 100 bp 3'