Canonical Allele Identifier: CA389349765

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31358980T>G (hg19) ; chr14:g.30889774T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889774T>G , CM000676.2:g.30889774T>G	GRCh38
NC_000014.8:g.31358980T>G , CM000676.1:g.31358980T>G	GRCh37
NC_000014.7:g.30428731T>G	NCBI36
NG_008211.2:g.20240T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.1831T>G	ENSP00000216361.5:p.Leu611Val
ENST00000396618.9:c.1636T>G MANE Select	ENSP00000379862.3:p.Leu546Val
ENST00000555117.2:c.1534+3462T>G	ENSP00000493569.1:n.1534+3462T>G
ENST00000643575.1:c.1636T>G	ENSP00000494838.1:p.Leu546Val
ENST00000643697.1:n.1938T>G
ENST00000644874.2:c.1636T>G	ENSP00000496360.1:p.Leu546Val
ENST00000216361.8:c.1636T>G	ENSP00000216361.4:p.Leu546Val
ENST00000396618.7:c.1636T>G	ENSP00000379862.3:p.Leu546Val
ENST00000460581.6:c.1300T>G	ENSP00000451713.1:p.Leu434Val
ENST00000468826.2:c.1287T>G
ENST00000475087.5:c.1477+3462T>G	ENSP00000451528.1:n.1477+3462T>G
NM_001135058.1:c.1636T>G	NP_001128530.1:p.Leu546Val
NM_004086.2:c.1636T>G	NP_004077.1:p.Leu546Val
NR_038356.1:n.35A>C
XM_011536539.1:c.1636T>G	XP_011534841.1:p.Leu546Val
NM_001347720.1:c.1831T>G	NP_001334649.1:p.Leu611Val
XM_017021071.1:c.1831T>G	XP_016876560.1:p.Leu611Val
XM_024449506.1:c.1693T>G	XP_024305274.1:p.Leu565Val
NM_004086.3:c.1636T>G MANE Select	NP_004077.1:p.Leu546Val
NM_001135058.2:c.1636T>G	NP_001128530.1:p.Leu546Val
NM_001347720.2:c.1831T>G	NP_001334649.1:p.Leu611Val