Canonical Allele Identifier: CA10588301
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 265014
ClinVar RCV Id: RCV000255758
dbSNP Id: rs867875828
gnomAD v3: 1-94051678-G-A
gnomAD v4: 1-94051678-G-A
MyVariant Identifiers: chr1:g.94517234G>A (hg19) chr1:g.94051678G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94051678G>A , CM000663.2:g.94051678G>A GRCh38
NC_000001.10:g.94517234G>A , CM000663.1:g.94517234G>A GRCh37
NC_000001.9:g.94289822G>A NCBI36
NG_009073.1:g.74472C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2608C>T MANE Select ENSP00000359245.3:p.Pro870Ser
ENST00000649773.1:c.2386C>T ENSP00000496882.1:p.Pro796Ser
ENST00000370225.3:c.2608C>T ENSP00000359245.3:p.Pro870Ser
ENST00000536513.5:c.-65+11496C>T ENSP00000439707.2:n.-65+11496C>T
NM_000350.2:c.2608C>T NP_000341.2:p.Pro870Ser
NM_000350.3:c.2608C>T MANE Select NP_000341.2:p.Pro870Ser
Search 100 bp 5'
Search 100 bp 3'