Canonical Allele Identifier: CA524386129

Gene: ABCA4

Linked Data

• dbSNP Id: rs1457905303
• gnomAD v2: 1-94526057-A-C
• gnomAD v4: 1-94060501-A-C
• MyVariant Identifiers: chr1:g.94526057A>C (hg19) ; chr1:g.94060501A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060501A>C , CM000663.2:g.94060501A>C	GRCh38
NC_000001.10:g.94526057A>C , CM000663.1:g.94526057A>C	GRCh37
NC_000001.9:g.94298645A>C	NCBI36
NG_009073.1:g.65649T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2160+36T>G MANE Select	ENSP00000359245.3:n.2160+36T>G
ENST00000649773.1:c.2160+36T>G	ENSP00000496882.1:n.2160+36T>G
ENST00000370225.3:c.2160+36T>G	ENSP00000359245.3:n.2160+36T>G
ENST00000472033.1:n.280+36T>G
ENST00000536513.5:c.-65+2673T>G	ENSP00000439707.2:n.-65+2673T>G
NM_000350.2:c.2160+36T>G	NP_000341.2:n.2160+36T>G
NM_000350.3:c.2160+36T>G MANE Select	NP_000341.2:n.2160+36T>G