Canonical Allele Identifier: CA7142945

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30877666C>A , CM000676.2:g.30877666C>A	GRCh38
NC_000014.8:g.31346872C>A , CM000676.1:g.31346872C>A	GRCh37
NC_000014.7:g.30416623C>A	NCBI36
NG_008211.2:g.8132C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.372C>A	ENSP00000216361.5:p.Phe124Leu
ENST00000396618.9:c.177C>A MANE Select	ENSP00000379862.3:p.Phe59Leu
ENST00000555117.2:c.177C>A	ENSP00000493569.1:p.Phe59Leu
ENST00000643575.1:c.177C>A	ENSP00000494838.1:p.Phe59Leu
ENST00000643697.1:n.422C>A
ENST00000644874.2:c.177C>A	ENSP00000496360.1:p.Phe59Leu
ENST00000216361.8:c.177C>A	ENSP00000216361.4:p.Phe59Leu
ENST00000396618.7:c.177C>A	ENSP00000379862.3:p.Phe59Leu
ENST00000460581.6:c.-160C>A	ENSP00000451713.1:n.-160C>A
ENST00000475087.5:c.177C>A	ENSP00000451528.1:p.Phe59Leu
ENST00000553772.5:c.177C>A	ENSP00000452343.1:p.Phe59Leu
ENST00000553833.5:n.331C>A
ENST00000555881.5:c.82+2563C>A	ENSP00000452569.1:n.82+2563C>A
ENST00000556908.5:c.129C>A	ENSP00000452541.1:p.Phe43Leu
ENST00000557065.1:c.93C>A	ENSP00000451629.1:p.Phe31Leu
NM_001135058.1:c.177C>A	NP_001128530.1:p.Phe59Leu
NM_004086.2:c.177C>A	NP_004077.1:p.Phe59Leu
NR_038356.1:n.1618-1114G>T
XM_011536539.1:c.177C>A	XP_011534841.1:p.Phe59Leu
NM_001347720.1:c.372C>A	NP_001334649.1:p.Phe124Leu
XM_017021071.1:c.372C>A	XP_016876560.1:p.Phe124Leu
XM_024449506.1:c.177C>A	XP_024305274.1:p.Phe59Leu
NM_004086.3:c.177C>A MANE Select	NP_004077.1:p.Phe59Leu
NM_001135058.2:c.177C>A	NP_001128530.1:p.Phe59Leu
NM_001347720.2:c.372C>A	NP_001334649.1:p.Phe124Leu