Canonical Allele Identifier: CA956805
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1294239
ClinVar RCV Id: RCV001718518
dbSNP Id: rs7518454
ExAC: 1:94463366 G / C
gnomAD v2: 1-94463366-G-C
gnomAD v3: 1-93997810-G-C
gnomAD v4: 1-93997810-G-C
MyVariant Identifiers: chr1:g.94463366G>C (hg19) chr1:g.93997810G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997810G>C , CM000663.2:g.93997810G>C GRCh38
NC_000001.10:g.94463366G>C , CM000663.1:g.94463366G>C GRCh37
NC_000001.9:g.94235954G>C NCBI36
NG_009073.1:g.128340C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6729+51C>G MANE Select ENSP00000359245.3:n.6729+51C>G
ENST00000370225.3:c.6729+51C>G ENSP00000359245.3:n.6729+51C>G
ENST00000536513.5:c.3105+51C>G ENSP00000439707.2:n.3105+51C>G
NM_000350.2:c.6729+51C>G NP_000341.2:n.6729+51C>G
NM_000350.3:c.6729+51C>G MANE Select NP_000341.2:n.6729+51C>G
Search 100 bp 5'
Search 100 bp 3'