Canonical Allele Identifier: CA510583525

Gene: HNF4A

Linked Data

• dbSNP Id: rs1186576207
• gnomAD v2: 20-43058477-CCCTTG-C
• gnomAD v3: 20-44429837-CCCTTG-C
• gnomAD v4: 20-44429837-CCCTTG-C
• COSMIC: COSN18743091 ; COSN18743103
• MyVariant Identifiers: chr20:g.43058478_43058482del (hg19) ; chr20:g.44429838_44429842del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44429838_44429842del , CM000682.2:g.44429838_44429842del	GRCh38
NC_000020.10:g.43058478_43058482del , CM000682.1:g.43058478_43058482del	GRCh37
NC_000020.9:g.42491892_42491896del	NCBI36
NG_009818.1:g.79038_79042del , LRG_483:g.79038_79042del

Transcript Alleles

HGVS	Amino-acid change
ENST00000316673.9:c.*173_*177del MANE Select	ENSP00000315180.4:n.*173_*177del
ENST00000316099.10:c.*173_*177del	ENSP00000312987.3:n.*173_*177del
ENST00000316099.9:c.*173_*177del	ENSP00000312987.3:n.*173_*177del
ENST00000316099.8:c.*173_*177del	ENSP00000312987.3:n.*173_*177del
ENST00000372920.1:c.*1365_*1369del	ENSP00000362011.1:n.*1365_*1369del
ENST00000415691.2:c.*173_*177del	ENSP00000412111.1:n.*173_*177del
ENST00000619550.4:c.*173_*177del	ENSP00000481331.1:n.*173_*177del
NM_000457.4:c.*173_*177del , LRG_483t2:c.*173_*177del	NP_000448.3:n.*173_*177del
NM_001030003.2:c.*173_*177del	NP_001025174.1:n.*173_*177del
NM_001258355.1:c.*173_*177del	NP_001245284.1:n.*173_*177del
NM_001287182.1:c.*173_*177del	NP_001274111.1:n.*173_*177del
NM_001287183.1:c.*173_*177del , LRG_483t3:c.*173_*177del	NP_001274112.1:n.*173_*177del
NM_175914.4:c.*173_*177del , LRG_483t1:c.*173_*177del	NP_787110.2:n.*173_*177del
NM_178849.2:c.*173_*177del	NP_849180.1:n.*173_*177del
XM_005260407.2:c.*173_*177del	XP_005260464.1:n.*173_*177del
XM_011528797.1:c.*173_*177del	XP_011527099.1:n.*173_*177del
XM_011528798.1:c.*173_*177del	XP_011527100.1:n.*173_*177del
XM_005260407.4:c.*173_*177del	XP_005260464.1:n.*173_*177del
NM_001030003.3:c.*173_*177del	NP_001025174.1:n.*173_*177del
NM_001258355.2:c.*173_*177del	NP_001245284.1:n.*173_*177del
NM_001287182.2:c.*173_*177del	NP_001274111.1:n.*173_*177del
NM_178849.3:c.*173_*177del	NP_849180.1:n.*173_*177del
NM_000457.5:c.*173_*177del	NP_000448.3:n.*173_*177del
NM_000457.6:c.*173_*177del	NP_000448.3:n.*173_*177del
NM_001287183.2:c.*173_*177del	NP_001274112.1:n.*173_*177del
NM_175914.5:c.*173_*177del MANE Select	NP_787110.2:n.*173_*177del