Canonical Allele Identifier: CA957176

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298225
• ClinVar RCV Id: RCV000266769 ; RCV000269853 ; RCV000306349 ; RCV000361052 ; RCV000922637 ; RCV001096232 ; RCV003888705
• dbSNP Id: rs191506332
• ExAC: 1:94476358 T / C
• gnomAD v2: 1-94476358-T-C
• gnomAD v3: 1-94010802-T-C
• gnomAD v4: 1-94010802-T-C
• MyVariant Identifiers: chr1:g.94476358T>C (hg19) ; chr1:g.94010802T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94010802T>C , CM000663.2:g.94010802T>C	GRCh38
NC_000001.10:g.94476358T>C , CM000663.1:g.94476358T>C	GRCh37
NC_000001.9:g.94248946T>C	NCBI36
NG_009073.1:g.115348A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5712A>G MANE Select	ENSP00000359245.3:p.Gln1904=
ENST00000370225.3:c.5712A>G	ENSP00000359245.3:p.Gln1904=
ENST00000465352.1:n.128A>G
ENST00000536513.5:c.2088A>G	ENSP00000439707.2:p.Gln696=
NM_000350.2:c.5712A>G	NP_000341.2:p.Gln1904=
NM_000350.3:c.5712A>G MANE Select	NP_000341.2:p.Gln1904=