Canonical Allele Identifier: CA2950994
Gene: AMTN HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.70524911C>A
GRCh37 chr4:g.71390628C>A
Revel Score:
ENST00000339336 (MANE Select) 0.034
ENST00000504451 0.034
gnomAD v2:
4:71390628 C / A
gnomAD v4:
chr4-70524911-C-A
Joint Max Group AF 0.00006763 (SAS)
Exomes Max Group AF 0.00007124 (SAS)
ClinVar Allele:
2271822
ClinVar RCV:
RCV004130656
ClinVar Variation:
2275519
dbSNP:
773319021
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70524911C>A , CM000666.2:g.70524911C>A GRCh38
NC_000004.11:g.71390628C>A , CM000666.1:g.71390628C>A GRCh37
NC_000004.10:g.71425217C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000339336.9:c.244C>A MANE Select ENSP00000341013.4:p.His82Asn
ENST00000339336.8:c.244C>A ENSP00000341013.4:p.His82Asn
ENST00000504451.1:c.241C>A ENSP00000422452.1:p.His81Asn
NM_001286731.1:c.241C>A NP_001273660.1:p.His81Asn
NM_212557.3:c.244C>A NP_997722.1:p.His82Asn
NM_212557.4:c.244C>A MANE Select NP_997722.1:p.His82Asn
NM_001286731.2:c.241C>A NP_001273660.1:p.His81Asn
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