Canonical Allele Identifier: CA958825

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298267
• ClinVar RCV Id: RCV000262244 ; RCV000275189 ; RCV000330288 ; RCV000375450 ; RCV001100154 ; RCV000902561
• dbSNP Id: rs148091207
• ExAC: 1:94568673 G / A
• gnomAD v2: 1-94568673-G-A
• gnomAD v3: 1-94103117-G-A
• gnomAD v4: 1-94103117-G-A
• MyVariant Identifiers: chr1:g.94568673G>A (hg19) ; chr1:g.94103117G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94103117G>A , CM000663.2:g.94103117G>A	GRCh38
NC_000001.10:g.94568673G>A , CM000663.1:g.94568673G>A	GRCh37
NC_000001.9:g.94341261G>A	NCBI36
NG_009073.1:g.23033C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.468C>T MANE Select	ENSP00000359245.3:p.Ile156=
ENST00000649773.1:c.468C>T	ENSP00000496882.1:p.Ile156=
ENST00000370225.3:c.468C>T	ENSP00000359245.3:p.Ile156=
NM_000350.2:c.468C>T	NP_000341.2:p.Ile156=
NM_000350.3:c.468C>T MANE Select	NP_000341.2:p.Ile156=