Canonical Allele Identifier: CA1414776

Gene: CNIH4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.224375802T>G , CM000663.2:g.224375802T>G	GRCh38
NC_000001.10:g.224563504T>G , CM000663.1:g.224563504T>G	GRCh37
NC_000001.9:g.222630127T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465271.6:c.400T>G MANE Select	ENSP00000420443.1:p.Leu134Val
ENST00000366856.3:c.393-3267T>G	ENSP00000355821.3:n.393-3267T>G
ENST00000366857.9:c.259T>G	ENSP00000355822.5:p.Leu87Val
ENST00000366858.7:c.252-3267T>G	ENSP00000355823.3:n.252-3267T>G
ENST00000366860.9:n.716T>G
ENST00000465271.5:c.400T>G	ENSP00000420443.1:p.Leu134Val
ENST00000468318.5:n.443T>G
NM_001277197.1:c.259T>G	NP_001264126.1:p.Leu87Val
NM_001277198.1:c.*8T>G	NP_001264127.1:n.*8T>G
NM_001277199.1:c.211T>G	NP_001264128.1:p.Leu71Val
NM_001277200.1:c.393-3267T>G	NP_001264129.1:n.393-3267T>G
NM_014184.3:c.400T>G	NP_054903.1:p.Leu134Val
NR_102347.1:n.495T>G
XM_006711768.2:c.211T>G	XP_006711831.1:p.Leu71Val
NM_014184.4:c.400T>G MANE Select	NP_054903.1:p.Leu134Val
NM_001277197.2:c.259T>G	NP_001264126.1:p.Leu87Val
NM_001277198.2:c.*8T>G	NP_001264127.1:n.*8T>G
NM_001277199.2:c.211T>G	NP_001264128.1:p.Leu71Val
NM_001277200.2:c.393-3267T>G	NP_001264129.1:n.393-3267T>G
NR_102347.2:n.427T>G