Canonical Allele Identifier: CA389347605

Gene: COCH

Linked Data

• gnomAD v4: 14-30885471-G-T
• MyVariant Identifiers: chr14:g.31354677G>T (hg19) ; chr14:g.30885471G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885471G>T , CM000676.2:g.30885471G>T	GRCh38
NC_000014.8:g.31354677G>T , CM000676.1:g.31354677G>T	GRCh37
NC_000014.7:g.30424428G>T	NCBI36
NG_008211.2:g.15937G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1006G>T	ENSP00000216361.5:p.Val336Leu
ENST00000396618.9:c.811G>T MANE Select	ENSP00000379862.3:p.Val271Leu
ENST00000555117.2:c.868G>T	ENSP00000493569.1:p.Val290Leu
ENST00000643575.1:c.811G>T	ENSP00000494838.1:p.Val271Leu
ENST00000643697.1:n.1113G>T
ENST00000644874.2:c.811G>T	ENSP00000496360.1:p.Val271Leu
ENST00000216361.8:c.811G>T	ENSP00000216361.4:p.Val271Leu
ENST00000396618.7:c.811G>T	ENSP00000379862.3:p.Val271Leu
ENST00000460581.6:c.475G>T	ENSP00000451713.1:p.Val159Leu
ENST00000468826.2:c.462G>T
ENST00000475087.5:c.811G>T	ENSP00000451528.1:p.Val271Leu
ENST00000555881.5:c.457G>T	ENSP00000452569.1:p.Val153Leu
ENST00000557065.1:c.593G>T	ENSP00000451629.1:n.593G>T
NM_001135058.1:c.811G>T	NP_001128530.1:p.Val271Leu
NM_004086.2:c.811G>T	NP_004077.1:p.Val271Leu
NR_038356.1:n.1394C>A
XM_011536539.1:c.811G>T	XP_011534841.1:p.Val271Leu
NM_001347720.1:c.1006G>T	NP_001334649.1:p.Val336Leu
XM_017021071.1:c.1006G>T	XP_016876560.1:p.Val336Leu
XM_024449506.1:c.868G>T	XP_024305274.1:p.Val290Leu
NM_004086.3:c.811G>T MANE Select	NP_004077.1:p.Val271Leu
NM_001135058.2:c.811G>T	NP_001128530.1:p.Val271Leu
NM_001347720.2:c.1006G>T	NP_001334649.1:p.Val336Leu