Canonical Allele Identifier: CA958052

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 289310
• ClinVar RCV Id: RCV000412846 ; RCV001074386 ; RCV001002835
• dbSNP Id: rs201855602
• ExAC: 1:94509026 G / A
• gnomAD v2: 1-94509026-G-A
• gnomAD v3: 1-94043470-G-A
• gnomAD v4: 1-94043470-G-A
• MyVariant Identifiers: chr1:g.94509026G>A (hg19) ; chr1:g.94043470G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043470G>A , CM000663.2:g.94043470G>A	GRCh38
NC_000001.10:g.94509026G>A , CM000663.1:g.94509026G>A	GRCh37
NC_000001.9:g.94281614G>A	NCBI36
NG_009073.1:g.82680C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3056C>T MANE Select	ENSP00000359245.3:p.Thr1019Met
ENST00000370225.3:c.3056C>T	ENSP00000359245.3:p.Thr1019Met
ENST00000536513.5:c.-64-3381C>T	ENSP00000439707.2:n.-64-3381C>T
NM_000350.2:c.3056C>T	NP_000341.2:p.Thr1019Met
NM_000350.3:c.3056C>T MANE Select	NP_000341.2:p.Thr1019Met