Canonical Allele Identifier: CA957421
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1003921
ClinVar RCV Id: RCV001300543
dbSNP Id: rs775080600
ExAC: 1:94486863 C / T
gnomAD v2: 1-94486863-C-T
gnomAD v3: 1-94021307-C-T
gnomAD v4: 1-94021307-C-T
COSMIC: COSM1688053
MyVariant Identifiers: chr1:g.94486863C>T (hg19) chr1:g.94021307C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021307C>T , CM000663.2:g.94021307C>T GRCh38
NC_000001.10:g.94486863C>T , CM000663.1:g.94486863C>T GRCh37
NC_000001.9:g.94259451C>T NCBI36
NG_009073.1:g.104843G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4951G>A MANE Select ENSP00000359245.3:p.Glu1651Lys
ENST00000370225.3:c.4951G>A ENSP00000359245.3:p.Glu1651Lys
ENST00000460514.1:n.445G>A
ENST00000470771.1:n.61G>A
ENST00000536513.5:c.1327G>A ENSP00000439707.2:p.Glu443Lys
NM_000350.2:c.4951G>A NP_000341.2:p.Glu1651Lys
NM_000350.3:c.4951G>A MANE Select NP_000341.2:p.Glu1651Lys
Search 100 bp 5'
Search 100 bp 3'