Canonical Allele Identifier: CA341278685
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 853194
ClinVar RCV Id: RCV001057961
dbSNP Id: rs1376036671
gnomAD v2: 1-94526219-C-A
gnomAD v4: 1-94060663-C-A
MyVariant Identifiers: chr1:g.94526219C>A (hg19) chr1:g.94060663C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060663C>A , CM000663.2:g.94060663C>A GRCh38
NC_000001.10:g.94526219C>A , CM000663.1:g.94526219C>A GRCh37
NC_000001.9:g.94298807C>A NCBI36
NG_009073.1:g.65487G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2034G>T MANE Select ENSP00000359245.3:p.Lys678Asn
ENST00000649773.1:c.2034G>T ENSP00000496882.1:p.Lys678Asn
ENST00000370225.3:c.2034G>T ENSP00000359245.3:p.Lys678Asn
ENST00000472033.1:n.154G>T
ENST00000536513.5:c.-65+2511G>T ENSP00000439707.2:n.-65+2511G>T
NM_000350.2:c.2034G>T NP_000341.2:p.Lys678Asn
NM_000350.3:c.2034G>T MANE Select NP_000341.2:p.Lys678Asn
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