Canonical Allele Identifier: CA227236
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99318
ClinVar RCV Id: RCV000085671
dbSNP Id: rs61752437
MyVariant Identifiers: chr1:g.94487400A>G (hg19) chr1:g.94021844A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021844A>G , CM000663.2:g.94021844A>G GRCh38
NC_000001.10:g.94487400A>G , CM000663.1:g.94487400A>G GRCh37
NC_000001.9:g.94259988A>G NCBI36
NG_009073.1:g.104306T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4773+2T>C MANE Select ENSP00000359245.3:n.4773+2T>C
ENST00000370225.3:c.4773+2T>C ENSP00000359245.3:n.4773+2T>C
ENST00000460514.1:n.267+2T>C
ENST00000536513.5:c.1149+2T>C ENSP00000439707.2:n.1149+2T>C
NM_000350.2:c.4773+2T>C NP_000341.2:n.4773+2T>C
NM_000350.3:c.4773+2T>C MANE Select NP_000341.2:n.4773+2T>C
Search 100 bp 5'
Search 100 bp 3'