Canonical Allele Identifier: CA341283091
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94486895C>G (hg19) chr1:g.94021339C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021339C>G , CM000663.2:g.94021339C>G GRCh38
NC_000001.10:g.94486895C>G , CM000663.1:g.94486895C>G GRCh37
NC_000001.9:g.94259483C>G NCBI36
NG_009073.1:g.104811G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4919G>C MANE Select ENSP00000359245.3:p.Arg1640Pro
ENST00000370225.3:c.4919G>C ENSP00000359245.3:p.Arg1640Pro
ENST00000460514.1:n.413G>C
ENST00000470771.1:n.29G>C
ENST00000536513.5:c.1295G>C ENSP00000439707.2:p.Arg432Pro
NM_000350.2:c.4919G>C NP_000341.2:p.Arg1640Pro
NM_000350.3:c.4919G>C MANE Select NP_000341.2:p.Arg1640Pro
Search 100 bp 5'
Search 100 bp 3'