Canonical Allele Identifier: CA2951384
Gene: AMBN HGNC NCBI

Linked Data

ClinVar Variation Id: 372171
ClinVar RCV Id: RCV000412617
dbSNP Id: rs146238585
ExAC: 4:71468340 G / C
gnomAD v3: 4-70602623-G-C
gnomAD v4: 4-70602623-G-C
COSMIC: COSM343674
MyVariant Identifiers: chr4:g.71468340G>C (hg19) chr4:g.70602623G>C (hg38)
PubMed: PMID:26502894
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70602623G>C , CM000666.2:g.70602623G>C GRCh38
NC_000004.11:g.71468340G>C , CM000666.1:g.71468340G>C GRCh37
NC_000004.10:g.71502929G>C NCBI36
NG_042078.1:g.15366G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322937.10:c.532-1G>C MANE Select ENSP00000313809.6:n.532-1G>C
ENST00000449493.2:c.487-1G>C ENSP00000391234.2:n.487-1G>C
ENST00000613447.4:c.536-8G>C ENSP00000479096.1:n.536-8G>C
NM_016519.5:c.532-1G>C NP_057603.1:n.532-1G>C
NM_016519.6:c.532-1G>C MANE Select NP_057603.1:n.532-1G>C
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