Canonical Allele Identifier: CA409106964
Community Standard Title: NM_175914.5(HNF4A):c.643A>G (p.Met215Val)
Gene: HNF4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44418485A>G , CM000682.2:g.44418485A>G GRCh38
NC_000020.10:g.43047125A>G , CM000682.1:g.43047125A>G GRCh37
NC_000020.9:g.42480539A>G NCBI36
NG_009818.1:g.67685A>G , LRG_483:g.67685A>G

Transcript Alleles

HGVS Amino-acid Change
NM_175914.5:c.643A>G MANE Select NP_787110.2:p.Met215Val
ENST00000316673.9:c.643A>G MANE Select ENSP00000315180.4:p.Met215Val
NM_000457.4:c.709A>G , LRG_483t2:c.709A>G NP_000448.3:p.Met237Val
NM_000457.5:c.709A>G NP_000448.3:p.Met237Val
NM_000457.6:c.709A>G NP_000448.3:p.Met237Val
NM_001030003.2:c.643A>G NP_001025174.1:p.Met215Val
NM_001030003.3:c.643A>G NP_001025174.1:p.Met215Val
NM_001030004.2:c.643A>G NP_001025175.1:p.Met215Val
NM_001030004.3:c.643A>G NP_001025175.1:p.Met215Val
NM_001258355.1:c.688A>G NP_001245284.1:p.Met230Val
NM_001258355.2:c.688A>G NP_001245284.1:p.Met230Val
NM_001287182.1:c.634A>G NP_001274111.1:p.Met212Val
NM_001287182.2:c.634A>G NP_001274111.1:p.Met212Val
NM_001287183.1:c.634A>G , LRG_483t3:c.634A>G NP_001274112.1:p.Met212Val
NM_001287183.2:c.634A>G NP_001274112.1:p.Met212Val
NM_001287184.1:c.634A>G NP_001274113.1:p.Met212Val
NM_001287184.2:c.634A>G NP_001274113.1:p.Met212Val
NM_175914.4:c.643A>G , LRG_483t1:c.643A>G NP_787110.2:p.Met215Val
NM_178849.2:c.709A>G NP_849180.1:p.Met237Val
NM_178849.3:c.709A>G NP_849180.1:p.Met237Val
NM_178850.2:c.709A>G NP_849181.1:p.Met237Val
NM_178850.3:c.709A>G NP_849181.1:p.Met237Val
ENST00000316099.10:c.709A>G ENSP00000312987.3:p.Met237Val
ENST00000316099.8:c.709A>G ENSP00000312987.3:p.Met237Val
ENST00000316099.9:c.709A>G ENSP00000312987.3:p.Met237Val
ENST00000316673.8:c.643A>G ENSP00000315180.4:p.Met215Val
ENST00000372920.1:c.*476A>G ENSP00000362011.1:n.*476A>G
ENST00000415691.2:c.709A>G ENSP00000412111.1:p.Met237Val
ENST00000443598.6:c.709A>G ENSP00000410911.2:p.Met237Val
ENST00000457232.5:c.643A>G ENSP00000396216.1:p.Met215Val
ENST00000609795.5:c.643A>G ENSP00000476609.1:p.Met215Val
ENST00000619550.4:c.634A>G ENSP00000481331.1:p.Met212Val
ENST00000619550.5:c.683A>G
ENST00000683148.1:n.685A>G
ENST00000683657.1:n.1833A>G
XM_005260407.2:c.826A>G XP_005260464.1:p.Met276Val
XM_005260407.4:c.826A>G XP_005260464.1:p.Met276Val
XM_011528797.1:c.757A>G XP_011527099.1:p.Met253Val
XM_011528798.1:c.757A>G XP_011527100.1:p.Met253Val