Canonical Allele Identifier: CA10610441

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298218
• ClinVar RCV Id: RCV000310088 ; RCV000348599 ; RCV000393813 ; RCV000403289 ; RCV001096131 ; RCV001672414
• dbSNP Id: rs55665437
• gnomAD v2: 1-94458657-C-T
• gnomAD v3: 1-93993101-C-T
• gnomAD v4: 1-93993101-C-T
• MyVariant Identifiers: chr1:g.94458657C>T (hg19) ; chr1:g.93993101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93993101C>T , CM000663.2:g.93993101C>T	GRCh38
NC_000001.10:g.94458657C>T , CM000663.1:g.94458657C>T	GRCh37
NC_000001.9:g.94231245C>T	NCBI36
NG_009073.1:g.133049G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.*136G>A MANE Select	ENSP00000359245.3:n.*136G>A
ENST00000370225.3:c.*136G>A	ENSP00000359245.3:n.*136G>A
ENST00000536513.5:c.*136G>A	ENSP00000439707.2:n.*136G>A
NM_000350.2:c.*136G>A	NP_000341.2:n.*136G>A
NM_000350.3:c.*136G>A MANE Select	NP_000341.2:n.*136G>A