Canonical Allele Identifier: CA227025

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99155
• ClinVar RCV Id: RCV000085502 ; RCV000787777 ; RCV001101956 ; RCV002470763
• dbSNP Id: rs61754030
• ExAC: 1:94514466 T / C
• gnomAD v2: 1-94514466-T-C
• gnomAD v3: 1-94048910-T-C
• gnomAD v4: 1-94048910-T-C
• MyVariant Identifiers: chr1:g.94514466T>C (hg19) ; chr1:g.94048910T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94048910T>C , CM000663.2:g.94048910T>C	GRCh38
NC_000001.10:g.94514466T>C , CM000663.1:g.94514466T>C	GRCh37
NC_000001.9:g.94287054T>C	NCBI36
NG_009073.1:g.77240A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2701A>G MANE Select	ENSP00000359245.3:p.Thr901Ala
ENST00000649773.1:c.2479A>G	ENSP00000496882.1:p.Thr827Ala
ENST00000370225.3:c.2701A>G	ENSP00000359245.3:p.Thr901Ala
ENST00000536513.5:c.-64-8821A>G	ENSP00000439707.2:n.-64-8821A>G
NM_000350.2:c.2701A>G	NP_000341.2:p.Thr901Ala
NM_000350.3:c.2701A>G MANE Select	NP_000341.2:p.Thr901Ala