Canonical Allele Identifier: CA26827279

Gene: ABCA4

Linked Data

• dbSNP Id: rs112005636
• MyVariant Identifiers: chr1:g.94461663A>G (hg19) ; chr1:g.93996107A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93996107A>G , CM000663.2:g.93996107A>G	GRCh38
NC_000001.10:g.94461663A>G , CM000663.1:g.94461663A>G	GRCh37
NC_000001.9:g.94234251A>G	NCBI36
NG_009073.1:g.130043T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.6816+2T>C MANE Select	ENSP00000359245.3:n.6816+2T>C
ENST00000370225.3:c.6816+2T>C	ENSP00000359245.3:n.6816+2T>C
ENST00000536513.5:c.3192+2T>C	ENSP00000439707.2:n.3192+2T>C
NM_000350.2:c.6816+2T>C	NP_000341.2:n.6816+2T>C
NM_000350.3:c.6816+2T>C MANE Select	NP_000341.2:n.6816+2T>C