Canonical Allele Identifier: CA26854468
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 866870
ClinVar RCV Id: RCV001075220 RCV001862602
dbSNP Id: rs1046550021
gnomAD v2: 1-94496024-G-C
gnomAD v3: 1-94030468-G-C
gnomAD v4: 1-94030468-G-C
MyVariant Identifiers: chr1:g.94496024G>C (hg19) chr1:g.94030468G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030468G>C , CM000663.2:g.94030468G>C GRCh38
NC_000001.10:g.94496024G>C , CM000663.1:g.94496024G>C GRCh37
NC_000001.9:g.94268612G>C NCBI36
NG_009073.1:g.95682C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4312C>G MANE Select ENSP00000359245.3:p.Pro1438Ala
ENST00000370225.3:c.4312C>G ENSP00000359245.3:p.Pro1438Ala
ENST00000536513.5:c.688C>G ENSP00000439707.2:p.Pro230Ala
NM_000350.2:c.4312C>G NP_000341.2:p.Pro1438Ala
NM_000350.3:c.4312C>G MANE Select NP_000341.2:p.Pro1438Ala
Search 100 bp 5'
Search 100 bp 3'