Canonical Allele Identifier: CA418812470

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94467546A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001990A>G , CM000663.2:g.94001990A>G	GRCh38
NC_000001.10:g.94467546A>G , CM000663.1:g.94467546A>G	GRCh37
NC_000001.9:g.94240134A>G	NCBI36
NG_009073.1:g.124160T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6150T>C MANE Select	ENSP00000359245.3:p.Val2050=
ENST00000370225.3:c.6150T>C	ENSP00000359245.3:p.Val2050=
ENST00000465352.1:n.566T>C
ENST00000536513.5:c.2526T>C	ENSP00000439707.2:p.Val842=
NM_000350.2:c.6150T>C	NP_000341.2:p.Val2050=
NM_000350.3:c.6150T>C MANE Select	NP_000341.2:p.Val2050=