Canonical Allele Identifier: CA1414665

Gene: CNIH4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.224356983C>T , CM000663.2:g.224356983C>T	GRCh38
NC_000001.10:g.224544685C>T , CM000663.1:g.224544685C>T	GRCh37
NC_000001.9:g.222611308C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014184.4:c.59C>T MANE Select	NP_054903.1:p.Ser20Leu
ENST00000465271.6:c.59C>T MANE Select	ENSP00000420443.1:p.Ser20Leu
NM_001277197.1:c.59C>T	NP_001264126.1:p.Ser20Leu
NM_001277197.2:c.59C>T	NP_001264126.1:p.Ser20Leu
NM_001277198.1:c.59C>T	NP_001264127.1:p.Ser20Leu
NM_001277198.2:c.59C>T	NP_001264127.1:p.Ser20Leu
NM_001277199.1:c.-409C>T	NP_001264128.1:n.-409C>T
NM_001277199.2:c.-409C>T	NP_001264128.1:n.-409C>T
NM_001277200.1:c.59C>T	NP_001264129.1:p.Ser20Leu
NM_001277200.2:c.59C>T	NP_001264129.1:p.Ser20Leu
NM_014184.3:c.59C>T	NP_054903.1:p.Ser20Leu
NR_102347.1:n.173C>T
NR_102347.2:n.105C>T
ENST00000366856.3:c.59C>T	ENSP00000355821.3:p.Ser20Leu
ENST00000366857.9:c.59C>T	ENSP00000355822.5:p.Ser20Leu
ENST00000366858.7:c.59C>T	ENSP00000355823.3:p.Ser20Leu
ENST00000366860.9:n.97C>T
ENST00000465271.5:c.59C>T	ENSP00000420443.1:p.Ser20Leu
ENST00000468318.5:n.96C>T
ENST00000477413.1:n.63C>T