Canonical Allele Identifier: CA958313
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 858235
ClinVar RCV Id: RCV001064069 RCV004030520
dbSNP Id: rs372508062
ExAC: 1:94522272 G / A
gnomAD v2: 1-94522272-G-A
gnomAD v3: 1-94056716-G-A
gnomAD v4: 1-94056716-G-A
MyVariant Identifiers: chr1:g.94522272G>A (hg19) chr1:g.94056716G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056716G>A , CM000663.2:g.94056716G>A GRCh38
NC_000001.10:g.94522272G>A , CM000663.1:g.94522272G>A GRCh37
NC_000001.9:g.94294860G>A NCBI36
NG_009073.1:g.69434C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2267C>T MANE Select ENSP00000359245.3:p.Ser756Phe
ENST00000649773.1:c.2161-1401C>T ENSP00000496882.1:n.2161-1401C>T
ENST00000370225.3:c.2267C>T ENSP00000359245.3:p.Ser756Phe
ENST00000536513.5:c.-65+6458C>T ENSP00000439707.2:n.-65+6458C>T
NM_000350.2:c.2267C>T NP_000341.2:p.Ser756Phe
NM_000350.3:c.2267C>T MANE Select NP_000341.2:p.Ser756Phe
Search 100 bp 5'
Search 100 bp 3'