Canonical Allele Identifier: CA418821668
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94486831C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021275C>G , CM000663.2:g.94021275C>G GRCh38
NC_000001.10:g.94486831C>G , CM000663.1:g.94486831C>G GRCh37
NC_000001.9:g.94259419C>G NCBI36
NG_009073.1:g.104875G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4983G>C MANE Select ENSP00000359245.3:p.Leu1661=
ENST00000370225.3:c.4983G>C ENSP00000359245.3:p.Leu1661=
ENST00000460514.1:n.477G>C
ENST00000470771.1:n.93G>C
ENST00000536513.5:c.1359G>C ENSP00000439707.2:p.Leu453=
NM_000350.2:c.4983G>C NP_000341.2:p.Leu1661=
NM_000350.3:c.4983G>C MANE Select NP_000341.2:p.Leu1661=