Canonical Allele Identifier: CA958865

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 236075
• ClinVar RCV Id: RCV000400700 ; RCV000283229 ; RCV000347578 ; RCV000377526 ; RCV000408482 ; RCV001100157 ; RCV001520655 ; RCV003888650
• dbSNP Id: rs201150919
• ExAC: 1:94574258 T / A
• gnomAD v2: 1-94574258-T-A
• gnomAD v3: 1-94108702-T-A
• gnomAD v4: 1-94108702-T-A
• MyVariant Identifiers: chr1:g.94574258T>A (hg19) ; chr1:g.94108702T>A (hg38)
• PubMed: PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94108702T>A , CM000663.2:g.94108702T>A	GRCh38
NC_000001.10:g.94574258T>A , CM000663.1:g.94574258T>A	GRCh37
NC_000001.9:g.94346846T>A	NCBI36
NG_009073.1:g.17448A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.317A>T MANE Select	ENSP00000359245.3:p.Tyr106Phe
ENST00000649773.1:c.317A>T	ENSP00000496882.1:p.Tyr106Phe
ENST00000370225.3:c.317A>T	ENSP00000359245.3:p.Tyr106Phe
NM_000350.2:c.317A>T	NP_000341.2:p.Tyr106Phe
NM_000350.3:c.317A>T MANE Select	NP_000341.2:p.Tyr106Phe