Canonical Allele Identifier: CA958456

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 236084
• ClinVar RCV Id: RCV000339859 ; RCV000408477 ; RCV000290027 ; RCV000325173 ; RCV000382014 ; RCV001100049 ; RCV001441278 ; RCV003258709
• dbSNP Id: rs143263315
• ExAC: 1:94528736 T / C
• gnomAD v2: 1-94528736-T-C
• gnomAD v3: 1-94063180-T-C
• gnomAD v4: 1-94063180-T-C
• MyVariant Identifiers: chr1:g.94528736T>C (hg19) ; chr1:g.94063180T>C (hg38)
• PubMed: PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94063180T>C , CM000663.2:g.94063180T>C	GRCh38
NC_000001.10:g.94528736T>C , CM000663.1:g.94528736T>C	GRCh37
NC_000001.9:g.94301324T>C	NCBI36
NG_009073.1:g.62970A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1692A>G MANE Select	ENSP00000359245.3:p.Pro564=
ENST00000649773.1:c.1692A>G	ENSP00000496882.1:p.Pro564=
ENST00000370225.3:c.1692A>G	ENSP00000359245.3:p.Pro564=
ENST00000536513.5:c.-71A>G	ENSP00000439707.2:n.-71A>G
NM_000350.2:c.1692A>G	NP_000341.2:p.Pro564=
NM_000350.3:c.1692A>G MANE Select	NP_000341.2:p.Pro564=