Canonical Allele Identifier: CA418811928

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94512570A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047014A>G , CM000663.2:g.94047014A>G	GRCh38
NC_000001.10:g.94512570A>G , CM000663.1:g.94512570A>G	GRCh37
NC_000001.9:g.94285158A>G	NCBI36
NG_009073.1:g.79136T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2823T>C MANE Select	ENSP00000359245.3:p.Cys941=
ENST00000649773.1:c.2601T>C	ENSP00000496882.1:p.Cys867=
ENST00000370225.3:c.2823T>C	ENSP00000359245.3:p.Cys941=
ENST00000536513.5:c.-64-6925T>C	ENSP00000439707.2:n.-64-6925T>C
NM_000350.2:c.2823T>C	NP_000341.2:p.Cys941=
NM_000350.3:c.2823T>C MANE Select	NP_000341.2:p.Cys941=