Canonical Allele Identifier: CA341276737
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1492643
ClinVar RCV Id: RCV001981115
dbSNP Id: rs1395925042
gnomAD v2: 1-94463656-C-T
gnomAD v4: 1-93998100-C-T
MyVariant Identifiers: chr1:g.94463656C>T (hg19) chr1:g.93998100C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93998100C>T , CM000663.2:g.93998100C>T GRCh38
NC_000001.10:g.94463656C>T , CM000663.1:g.94463656C>T GRCh37
NC_000001.9:g.94236244C>T NCBI36
NG_009073.1:g.128050G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6490G>A MANE Select ENSP00000359245.3:p.Gly2164Ser
ENST00000370225.3:c.6490G>A ENSP00000359245.3:p.Gly2164Ser
ENST00000536513.5:c.2866G>A ENSP00000439707.2:p.Gly956Ser
NM_000350.2:c.6490G>A NP_000341.2:p.Gly2164Ser
NM_000350.3:c.6490G>A MANE Select NP_000341.2:p.Gly2164Ser
Search 100 bp 5'
Search 100 bp 3'