Canonical Allele Identifier: CA226923
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99077
ClinVar RCV Id: RCV000085421
dbSNP Id: rs61754021
ExAC: 1:94528346 C / T
gnomAD v2: 1-94528346-C-T
gnomAD v3: 1-94062790-C-T
gnomAD v4: 1-94062790-C-T
MyVariant Identifiers: chr1:g.94528346C>T (hg19) chr1:g.94062790C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062790C>T , CM000663.2:g.94062790C>T GRCh38
NC_000001.10:g.94528346C>T , CM000663.1:g.94528346C>T GRCh37
NC_000001.9:g.94300934C>T NCBI36
NG_009073.1:g.63360G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1761-37G>A MANE Select ENSP00000359245.3:n.1761-37G>A
ENST00000649773.1:c.1761-37G>A ENSP00000496882.1:n.1761-37G>A
ENST00000370225.3:c.1761-37G>A ENSP00000359245.3:n.1761-37G>A
ENST00000536513.5:c.-65+384G>A ENSP00000439707.2:n.-65+384G>A
NM_000350.2:c.1761-37G>A NP_000341.2:n.1761-37G>A
NM_000350.3:c.1761-37G>A MANE Select NP_000341.2:n.1761-37G>A
Search 100 bp 5'
Search 100 bp 3'