Canonical Allele Identifier: CA10588302

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 265012
• ClinVar RCV Id: RCV000256006 ; RCV000504776 ; RCV001075471 ; RCV002518745
• dbSNP Id: rs145961131
• gnomAD v2: 1-94528164-G-A
• gnomAD v3: 1-94062608-G-A
• gnomAD v4: 1-94062608-G-A
• MyVariant Identifiers: chr1:g.94528164G>A (hg19) ; chr1:g.94062608G>A (hg38)
• PubMed: PMID:21911583 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062608G>A , CM000663.2:g.94062608G>A	GRCh38
NC_000001.10:g.94528164G>A , CM000663.1:g.94528164G>A	GRCh37
NC_000001.9:g.94300752G>A	NCBI36
NG_009073.1:g.63542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1906C>T MANE Select	ENSP00000359245.3:p.Gln636Ter
ENST00000649773.1:c.1906C>T	ENSP00000496882.1:p.Gln636Ter
ENST00000370225.3:c.1906C>T	ENSP00000359245.3:p.Gln636Ter
ENST00000536513.5:c.-65+566C>T	ENSP00000439707.2:n.-65+566C>T
NM_000350.2:c.1906C>T	NP_000341.2:p.Gln636Ter
NM_000350.3:c.1906C>T MANE Select	NP_000341.2:p.Gln636Ter