Canonical Allele Identifier: CA227255

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99332
• ClinVar RCV Id: RCV000085685 ; RCV000787506 ; RCV000986355 ; RCV001075879
• dbSNP Id: rs61753017
• ExAC: 1:94486888 G / C
• gnomAD v2: 1-94486888-G-C
• gnomAD v3: 1-94021332-G-C
• gnomAD v4: 1-94021332-G-C
• MyVariant Identifiers: chr1:g.94486888G>C (hg19) ; chr1:g.94021332G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021332G>C , CM000663.2:g.94021332G>C	GRCh38
NC_000001.10:g.94486888G>C , CM000663.1:g.94486888G>C	GRCh37
NC_000001.9:g.94259476G>C	NCBI36
NG_009073.1:g.104818C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4926C>G MANE Select	ENSP00000359245.3:p.Ser1642Arg
ENST00000370225.3:c.4926C>G	ENSP00000359245.3:p.Ser1642Arg
ENST00000460514.1:n.420C>G
ENST00000470771.1:n.36C>G
ENST00000536513.5:c.1302C>G	ENSP00000439707.2:p.Ser434Arg
NM_000350.2:c.4926C>G	NP_000341.2:p.Ser1642Arg
NM_000350.3:c.4926C>G MANE Select	NP_000341.2:p.Ser1642Arg