Canonical Allele Identifier: CA1414644

Gene: CNIH4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.224356932C>G , CM000663.2:g.224356932C>G	GRCh38
NC_000001.10:g.224544634C>G , CM000663.1:g.224544634C>G	GRCh37
NC_000001.9:g.222611257C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465271.6:c.8C>G MANE Select	ENSP00000420443.1:p.Ala3Gly
ENST00000366856.3:c.8C>G	ENSP00000355821.3:p.Ala3Gly
ENST00000366857.9:c.8C>G	ENSP00000355822.5:p.Ala3Gly
ENST00000366858.7:c.8C>G	ENSP00000355823.3:p.Ala3Gly
ENST00000366860.9:n.46C>G
ENST00000465271.5:c.8C>G	ENSP00000420443.1:p.Ala3Gly
ENST00000468318.5:n.45C>G
ENST00000477413.1:n.12C>G
NM_001277197.1:c.8C>G	NP_001264126.1:p.Ala3Gly
NM_001277198.1:c.8C>G	NP_001264127.1:p.Ala3Gly
NM_001277199.1:c.-460C>G	NP_001264128.1:n.-460C>G
NM_001277200.1:c.8C>G	NP_001264129.1:p.Ala3Gly
NM_014184.3:c.8C>G	NP_054903.1:p.Ala3Gly
NR_102347.1:n.122C>G
NM_014184.4:c.8C>G MANE Select	NP_054903.1:p.Ala3Gly
NM_001277197.2:c.8C>G	NP_001264126.1:p.Ala3Gly
NM_001277198.2:c.8C>G	NP_001264127.1:p.Ala3Gly
NM_001277199.2:c.-460C>G	NP_001264128.1:n.-460C>G
NM_001277200.2:c.8C>G	NP_001264129.1:p.Ala3Gly
NR_102347.2:n.54C>G