Canonical Allele Identifier: CA389347352

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31354608T>G (hg19) ; chr14:g.30885402T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885402T>G , CM000676.2:g.30885402T>G	GRCh38
NC_000014.8:g.31354608T>G , CM000676.1:g.31354608T>G	GRCh37
NC_000014.7:g.30424359T>G	NCBI36
NG_008211.2:g.15868T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.937T>G	ENSP00000216361.5:p.Leu313Val
ENST00000396618.9:c.742T>G MANE Select	ENSP00000379862.3:p.Leu248Val
ENST00000555117.2:c.799T>G	ENSP00000493569.1:p.Leu267Val
ENST00000643575.1:c.742T>G	ENSP00000494838.1:p.Leu248Val
ENST00000643697.1:n.1044T>G
ENST00000644874.2:c.742T>G	ENSP00000496360.1:p.Leu248Val
ENST00000216361.8:c.742T>G	ENSP00000216361.4:p.Leu248Val
ENST00000396618.7:c.742T>G	ENSP00000379862.3:p.Leu248Val
ENST00000460581.6:c.406T>G	ENSP00000451713.1:p.Leu136Val
ENST00000468826.2:c.393T>G
ENST00000475087.5:c.742T>G	ENSP00000451528.1:p.Leu248Val
ENST00000555881.5:c.388T>G	ENSP00000452569.1:p.Leu130Val
ENST00000557065.1:c.524T>G	ENSP00000451629.1:n.524T>G
NM_001135058.1:c.742T>G	NP_001128530.1:p.Leu248Val
NM_004086.2:c.742T>G	NP_004077.1:p.Leu248Val
NR_038356.1:n.1452+11A>C
XM_011536539.1:c.742T>G	XP_011534841.1:p.Leu248Val
NM_001347720.1:c.937T>G	NP_001334649.1:p.Leu313Val
XM_017021071.1:c.937T>G	XP_016876560.1:p.Leu313Val
XM_024449506.1:c.799T>G	XP_024305274.1:p.Leu267Val
NM_004086.3:c.742T>G MANE Select	NP_004077.1:p.Leu248Val
NM_001135058.2:c.742T>G	NP_001128530.1:p.Leu248Val
NM_001347720.2:c.937T>G	NP_001334649.1:p.Leu313Val