Canonical Allele Identifier: CA418813994
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94473797A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008241A>C , CM000663.2:g.94008241A>C GRCh38
NC_000001.10:g.94473797A>C , CM000663.1:g.94473797A>C GRCh37
NC_000001.9:g.94246385A>C NCBI36
NG_009073.1:g.117909T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5892T>G MANE Select ENSP00000359245.3:p.Pro1964=
ENST00000370225.3:c.5892T>G ENSP00000359245.3:p.Pro1964=
ENST00000465352.1:n.308T>G
ENST00000536513.5:c.2268T>G ENSP00000439707.2:p.Pro756=
NM_000350.2:c.5892T>G NP_000341.2:p.Pro1964=
NM_000350.3:c.5892T>G MANE Select NP_000341.2:p.Pro1964=