Canonical Allele Identifier: CA957653

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 417991
• ClinVar RCV Id: RCV000480271 ; RCV000787780 ; RCV001073593
• dbSNP Id: rs762150575
• ExAC: 1:94496010 G / T
• gnomAD v2: 1-94496010-G-T
• gnomAD v3: 1-94030454-G-T
• gnomAD v4: 1-94030454-G-T
• MyVariant Identifiers: chr1:g.94496010G>T (hg19) ; chr1:g.94030454G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030454G>T , CM000663.2:g.94030454G>T	GRCh38
NC_000001.10:g.94496010G>T , CM000663.1:g.94496010G>T	GRCh37
NC_000001.9:g.94268598G>T	NCBI36
NG_009073.1:g.95696C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4326C>A MANE Select	ENSP00000359245.3:p.Asn1442Lys
ENST00000370225.3:c.4326C>A	ENSP00000359245.3:p.Asn1442Lys
ENST00000536513.5:c.702C>A	ENSP00000439707.2:p.Asn234Lys
NM_000350.2:c.4326C>A	NP_000341.2:p.Asn1442Lys
NM_000350.3:c.4326C>A MANE Select	NP_000341.2:p.Asn1442Lys