Canonical Allele Identifier: CA524383994
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1557772832
gnomAD v2: 1-94496249-A-T
gnomAD v3: 1-94030693-A-T
gnomAD v4: 1-94030693-A-T
MyVariant Identifiers: chr1:g.94496249_94496251delinsTCT (hg19) chr1:g.94030693_94030695delinsTCT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030693A>T , CM000663.2:g.94030693A>T GRCh38
NC_000001.10:g.94496249A>T , CM000663.1:g.94496249A>T GRCh37
NC_000001.9:g.94268837A>T NCBI36
NG_009073.1:g.95457T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4254-167T>A MANE Select ENSP00000359245.3:n.4254-167T>A
ENST00000370225.3:c.4254-167T>A ENSP00000359245.3:n.4254-167T>A
ENST00000536513.5:c.630-167T>A ENSP00000439707.2:n.630-167T>A
NM_000350.2:c.4254-167T>A NP_000341.2:n.4254-167T>A
NM_000350.3:c.4254-167T>A MANE Select NP_000341.2:n.4254-167T>A
Search 100 bp 5'
Search 100 bp 3'