Canonical Allele Identifier: CA958756

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298266
• ClinVar RCV Id: RCV000299375 ; RCV000312349 ; RCV000337928 ; RCV000401167 ; RCV001098365 ; RCV002059509
• dbSNP Id: rs372976742
• ExAC: 1:94564377 G / A
• gnomAD v2: 1-94564377-G-A
• gnomAD v3: 1-94098821-G-A
• gnomAD v4: 1-94098821-G-A
• MyVariant Identifiers: chr1:g.94564377G>A (hg19) ; chr1:g.94098821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94098821G>A , CM000663.2:g.94098821G>A	GRCh38
NC_000001.10:g.94564377G>A , CM000663.1:g.94564377G>A	GRCh37
NC_000001.9:g.94336965G>A	NCBI36
NG_009073.1:g.27329C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.741C>T MANE Select	ENSP00000359245.3:p.Asn247=
ENST00000649773.1:c.741C>T	ENSP00000496882.1:p.Asn247=
ENST00000370225.3:c.741C>T	ENSP00000359245.3:p.Asn247=
NM_000350.2:c.741C>T	NP_000341.2:p.Asn247=
NM_000350.3:c.741C>T MANE Select	NP_000341.2:p.Asn247=