Canonical Allele Identifier: CA341286753

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94497348C>G (hg19) ; chr1:g.94031792C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94031792C>G , CM000663.2:g.94031792C>G	GRCh38
NC_000001.10:g.94497348C>G , CM000663.1:g.94497348C>G	GRCh37
NC_000001.9:g.94269936C>G	NCBI36
NG_009073.1:g.94358G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4114G>C MANE Select	ENSP00000359245.3:p.Asp1372His
ENST00000370225.3:c.4114G>C	ENSP00000359245.3:p.Asp1372His
ENST00000536513.5:c.490G>C	ENSP00000439707.2:p.Asp164His
NM_000350.2:c.4114G>C	NP_000341.2:p.Asp1372His
NM_000350.3:c.4114G>C MANE Select	NP_000341.2:p.Asp1372His