Canonical Allele Identifier: CA389349454

Gene: COCH

Linked Data

• dbSNP Id: rs1211008052
• gnomAD v2: 14-31358833-T-C
• gnomAD v3: 14-30889627-T-C
• gnomAD v4: 14-30889627-T-C
• MyVariant Identifiers: chr14:g.31358833T>C (hg19) ; chr14:g.30889627T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889627T>C , CM000676.2:g.30889627T>C	GRCh38
NC_000014.8:g.31358833T>C , CM000676.1:g.31358833T>C	GRCh37
NC_000014.7:g.30428584T>C	NCBI36
NG_008211.2:g.20093T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1684T>C	ENSP00000216361.5:p.Phe562Leu
ENST00000396618.9:c.1489T>C MANE Select	ENSP00000379862.3:p.Phe497Leu
ENST00000555117.2:c.1534+3315T>C	ENSP00000493569.1:n.1534+3315T>C
ENST00000643575.1:c.1489T>C	ENSP00000494838.1:p.Phe497Leu
ENST00000643697.1:n.1791T>C
ENST00000644874.2:c.1489T>C	ENSP00000496360.1:p.Phe497Leu
ENST00000216361.8:c.1489T>C	ENSP00000216361.4:p.Phe497Leu
ENST00000396618.7:c.1489T>C	ENSP00000379862.3:p.Phe497Leu
ENST00000460581.6:c.1153T>C	ENSP00000451713.1:p.Phe385Leu
ENST00000468826.2:c.1140T>C
ENST00000475087.5:c.1477+3315T>C	ENSP00000451528.1:n.1477+3315T>C
NM_001135058.1:c.1489T>C	NP_001128530.1:p.Phe497Leu
NM_004086.2:c.1489T>C	NP_004077.1:p.Phe497Leu
NR_038356.1:n.182A>G
XM_011536539.1:c.1489T>C	XP_011534841.1:p.Phe497Leu
NM_001347720.1:c.1684T>C	NP_001334649.1:p.Phe562Leu
XM_017021071.1:c.1684T>C	XP_016876560.1:p.Phe562Leu
XM_024449506.1:c.1546T>C	XP_024305274.1:p.Phe516Leu
NM_004086.3:c.1489T>C MANE Select	NP_004077.1:p.Phe497Leu
NM_001135058.2:c.1489T>C	NP_001128530.1:p.Phe497Leu
NM_001347720.2:c.1684T>C	NP_001334649.1:p.Phe562Leu