Canonical Allele Identifier: CA3336375

Gene: CCNH

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87399457A>G , CM000667.2:g.87399457A>G	GRCh38
NC_000005.9:g.86695274A>G , CM000667.1:g.86695274A>G	GRCh37
NC_000005.8:g.86731030A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713562.1:c.809T>C	ENSP00000518855.1:p.Val270Ala
ENST00000256897.9:c.809T>C MANE Select	ENSP00000256897.4:p.Val270Ala
ENST00000645953.1:c.809T>C	ENSP00000494460.1:p.Val270Ala
ENST00000256897.8:c.809T>C	ENSP00000256897.4:p.Val270Ala
ENST00000504115.1:n.495T>C
ENST00000504878.1:c.587T>C	ENSP00000426075.1:p.Val196Ala
ENST00000505587.5:n.325T>C
ENST00000508855.5:c.587T>C	ENSP00000426454.1:p.Val196Ala
ENST00000510921.5:n.227T>C
ENST00000511207.5:n.122T>C
NM_001199189.1:c.650T>C	NP_001186118.1:p.Val217Ala
NM_001239.3:c.809T>C	NP_001230.1:p.Val270Ala
XM_005248627.2:c.809T>C	XP_005248684.1:p.Val270Ala
XM_005248629.3:c.650T>C	XP_005248686.1:p.Val217Ala
XM_011543706.1:c.809T>C	XP_011542008.1:p.Val270Ala
NM_001363539.1:c.809T>C	NP_001350468.1:p.Val270Ala
NM_001364075.1:c.809T>C	NP_001351004.1:p.Val270Ala
NM_001364076.1:c.650T>C	NP_001351005.1:p.Val217Ala
NR_157068.1:n.1188T>C
NR_157069.1:n.781T>C
NR_157070.1:n.945T>C
NR_157071.1:n.781T>C
XM_005248627.4:c.809T>C	XP_005248684.1:p.Val270Ala
XM_005248629.4:c.650T>C	XP_005248686.1:p.Val217Ala
XR_001742327.2:n.822T>C
NM_001239.4:c.809T>C MANE Select	NP_001230.1:p.Val270Ala
NM_001364075.2:c.809T>C	NP_001351004.1:p.Val270Ala
NM_001364076.2:c.650T>C	NP_001351005.1:p.Val217Ala
NR_157068.2:n.1188T>C
NR_157069.2:n.781T>C
NR_157070.2:n.945T>C
NR_157071.2:n.781T>C
NM_001199189.2:c.650T>C	NP_001186118.1:p.Val217Ala
NM_001363539.2:c.809T>C	NP_001350468.1:p.Val270Ala