Canonical Allele Identifier: CA341283248
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 986969
ClinVar RCV Id: RCV001268157 RCV003324561
dbSNP Id: rs1659893796
MyVariant Identifiers: chr1:g.94486967T>C (hg19) chr1:g.94021411T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021411T>C , CM000663.2:g.94021411T>C GRCh38
NC_000001.10:g.94486967T>C , CM000663.1:g.94486967T>C GRCh37
NC_000001.9:g.94259555T>C NCBI36
NG_009073.1:g.104739A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4849-2A>G MANE Select ENSP00000359245.3:n.4849-2A>G
ENST00000370225.3:c.4849-2A>G ENSP00000359245.3:n.4849-2A>G
ENST00000460514.1:n.343-2A>G
ENST00000536513.5:c.1225-2A>G ENSP00000439707.2:n.1225-2A>G
NM_000350.2:c.4849-2A>G NP_000341.2:n.4849-2A>G
NM_000350.3:c.4849-2A>G MANE Select NP_000341.2:n.4849-2A>G
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