Canonical Allele Identifier: CA360392456
Gene: CCNH HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000713562.1:c.809T>G ENSP00000518855.1:p.Val270Gly
ENST00000256897.9:c.809T>G MANE Select ENSP00000256897.4:p.Val270Gly
ENST00000645953.1:c.809T>G ENSP00000494460.1:p.Val270Gly
ENST00000256897.8:c.809T>G ENSP00000256897.4:p.Val270Gly
ENST00000504115.1:n.495T>G
ENST00000504878.1:c.587T>G ENSP00000426075.1:p.Val196Gly
ENST00000505587.5:n.325T>G
ENST00000508855.5:c.587T>G ENSP00000426454.1:p.Val196Gly
ENST00000510921.5:n.227T>G
ENST00000511207.5:n.122T>G
NM_001199189.1:c.650T>G NP_001186118.1:p.Val217Gly
NM_001239.3:c.809T>G NP_001230.1:p.Val270Gly
XM_005248627.2:c.809T>G XP_005248684.1:p.Val270Gly
XM_005248629.3:c.650T>G XP_005248686.1:p.Val217Gly
XM_011543706.1:c.809T>G XP_011542008.1:p.Val270Gly
NM_001363539.1:c.809T>G NP_001350468.1:p.Val270Gly
NM_001364075.1:c.809T>G NP_001351004.1:p.Val270Gly
NM_001364076.1:c.650T>G NP_001351005.1:p.Val217Gly
NR_157068.1:n.1188T>G
NR_157069.1:n.781T>G
NR_157070.1:n.945T>G
NR_157071.1:n.781T>G
XM_005248627.4:c.809T>G XP_005248684.1:p.Val270Gly
XM_005248629.4:c.650T>G XP_005248686.1:p.Val217Gly
XR_001742327.2:n.822T>G
NM_001239.4:c.809T>G MANE Select NP_001230.1:p.Val270Gly
NM_001364075.2:c.809T>G NP_001351004.1:p.Val270Gly
NM_001364076.2:c.650T>G NP_001351005.1:p.Val217Gly
NR_157068.2:n.1188T>G
NR_157069.2:n.781T>G
NR_157070.2:n.945T>G
NR_157071.2:n.781T>G
NM_001199189.2:c.650T>G NP_001186118.1:p.Val217Gly
NM_001363539.2:c.809T>G NP_001350468.1:p.Val270Gly