Canonical Allele Identifier: CA344720312

Gene: CNIH4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.224375817G>T , CM000663.2:g.224375817G>T	GRCh38
NC_000001.10:g.224563519G>T , CM000663.1:g.224563519G>T	GRCh37
NC_000001.9:g.222630142G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465271.6:c.415G>T MANE Select	ENSP00000420443.1:p.Asp139Tyr
ENST00000366856.3:c.393-3252G>T	ENSP00000355821.3:n.393-3252G>T
ENST00000366857.9:c.274G>T	ENSP00000355822.5:p.Asp92Tyr
ENST00000366858.7:c.252-3252G>T	ENSP00000355823.3:n.252-3252G>T
ENST00000366860.9:n.731G>T
ENST00000465271.5:c.415G>T	ENSP00000420443.1:p.Asp139Tyr
ENST00000468318.5:n.458G>T
NM_001277197.1:c.274G>T	NP_001264126.1:p.Asp92Tyr
NM_001277198.1:c.*23G>T	NP_001264127.1:n.*23G>T
NM_001277199.1:c.226G>T	NP_001264128.1:p.Asp76Tyr
NM_001277200.1:c.393-3252G>T	NP_001264129.1:n.393-3252G>T
NM_014184.3:c.415G>T	NP_054903.1:p.Asp139Tyr
NR_102347.1:n.510G>T
XM_006711768.2:c.226G>T	XP_006711831.1:p.Asp76Tyr
NM_014184.4:c.415G>T MANE Select	NP_054903.1:p.Asp139Tyr
NM_001277197.2:c.274G>T	NP_001264126.1:p.Asp92Tyr
NM_001277198.2:c.*23G>T	NP_001264127.1:n.*23G>T
NM_001277199.2:c.226G>T	NP_001264128.1:p.Asp76Tyr
NM_001277200.2:c.393-3252G>T	NP_001264129.1:n.393-3252G>T
NR_102347.2:n.442G>T