Canonical Allele Identifier: CA227415

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99468
• ClinVar RCV Id: RCV000085829 ; RCV001002806
• dbSNP Id: rs61750658
• ExAC: 1:94463583 A / G
• gnomAD v2: 1-94463583-A-G
• gnomAD v3: 1-93998027-A-G
• gnomAD v4: 1-93998027-A-G
• MyVariant Identifiers: chr1:g.94463583A>G (hg19) ; chr1:g.93998027A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998027A>G , CM000663.2:g.93998027A>G	GRCh38
NC_000001.10:g.94463583A>G , CM000663.1:g.94463583A>G	GRCh37
NC_000001.9:g.94236171A>G	NCBI36
NG_009073.1:g.128123T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6563T>C MANE Select	ENSP00000359245.3:p.Phe2188Ser
ENST00000370225.3:c.6563T>C	ENSP00000359245.3:p.Phe2188Ser
ENST00000536513.5:c.2939T>C	ENSP00000439707.2:p.Phe980Ser
NM_000350.2:c.6563T>C	NP_000341.2:p.Phe2188Ser
NM_000350.3:c.6563T>C MANE Select	NP_000341.2:p.Phe2188Ser