Canonical Allele Identifier: CA957811

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298246
• ClinVar RCV Id: RCV000314607 ; RCV000349406 ; RCV000369258 ; RCV000406947 ; RCV000882442 ; RCV001099865
• dbSNP Id: rs75092434
• ExAC: 1:94502327 C / T
• gnomAD v2: 1-94502327-C-T
• gnomAD v3: 1-94036771-C-T
• gnomAD v4: 1-94036771-C-T
• COSMIC: COSM3934866
• MyVariant Identifiers: chr1:g.94502327C>T (hg19) ; chr1:g.94036771C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94036771C>T , CM000663.2:g.94036771C>T	GRCh38
NC_000001.10:g.94502327C>T , CM000663.1:g.94502327C>T	GRCh37
NC_000001.9:g.94274915C>T	NCBI36
NG_009073.1:g.89379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3831G>A MANE Select	ENSP00000359245.3:p.Thr1277=
ENST00000370225.3:c.3831G>A	ENSP00000359245.3:p.Thr1277=
ENST00000536513.5:c.207G>A	ENSP00000439707.2:p.Thr69=
NM_000350.2:c.3831G>A	NP_000341.2:p.Thr1277=
NM_000350.3:c.3831G>A MANE Select	NP_000341.2:p.Thr1277=