Canonical Allele Identifier: CA341285951
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2000194
ClinVar RCV Id: RCV002824339
MyVariant Identifiers: chr1:g.94496078C>G (hg19) chr1:g.94030522C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030522C>G , CM000663.2:g.94030522C>G GRCh38
NC_000001.10:g.94496078C>G , CM000663.1:g.94496078C>G GRCh37
NC_000001.9:g.94268666C>G NCBI36
NG_009073.1:g.95628G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4258G>C MANE Select ENSP00000359245.3:p.Asp1420His
ENST00000370225.3:c.4258G>C ENSP00000359245.3:p.Asp1420His
ENST00000536513.5:c.634G>C ENSP00000439707.2:p.Asp212His
NM_000350.2:c.4258G>C NP_000341.2:p.Asp1420His
NM_000350.3:c.4258G>C MANE Select NP_000341.2:p.Asp1420His
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