Canonical Allele Identifier: CA341292389

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94508890A>C (hg19) ; chr1:g.94043334A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043334A>C , CM000663.2:g.94043334A>C	GRCh38
NC_000001.10:g.94508890A>C , CM000663.1:g.94508890A>C	GRCh37
NC_000001.9:g.94281478A>C	NCBI36
NG_009073.1:g.82816T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.3190+2T>G MANE Select	ENSP00000359245.3:n.3190+2T>G
ENST00000370225.3:c.3190+2T>G	ENSP00000359245.3:n.3190+2T>G
ENST00000536513.5:c.-64-3245T>G	ENSP00000439707.2:n.-64-3245T>G
NM_000350.2:c.3190+2T>G	NP_000341.2:n.3190+2T>G
NM_000350.3:c.3190+2T>G MANE Select	NP_000341.2:n.3190+2T>G