Canonical Allele Identifier: CA958711

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 265010
• ClinVar RCV Id: RCV000255612 ; RCV000764206 ; RCV004542963
• dbSNP Id: rs138682163
• ExAC: 1:94548928 T / A
• gnomAD v2: 1-94548928-T-A
• gnomAD v3: 1-94083372-T-A
• gnomAD v4: 1-94083372-T-A
• MyVariant Identifiers: chr1:g.94548928T>A (hg19) ; chr1:g.94083372T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94083372T>A , CM000663.2:g.94083372T>A	GRCh38
NC_000001.10:g.94548928T>A , CM000663.1:g.94548928T>A	GRCh37
NC_000001.9:g.94321516T>A	NCBI36
NG_009073.1:g.42778A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.838A>T MANE Select	ENSP00000359245.3:p.Met280Leu
ENST00000649773.1:c.838A>T	ENSP00000496882.1:p.Met280Leu
ENST00000370225.3:c.838A>T	ENSP00000359245.3:p.Met280Leu
NM_000350.2:c.838A>T	NP_000341.2:p.Met280Leu
NM_000350.3:c.838A>T MANE Select	NP_000341.2:p.Met280Leu