Canonical Allele Identifier: CA7143190

Gene: COCH

Linked Data

• dbSNP Id: rs370194438
• ExAC: 14:31354610 G / A
• gnomAD v2: 14-31354610-G-A
• gnomAD v3: 14-30885404-G-A
• gnomAD v4: 14-30885404-G-A
• MyVariant Identifiers: chr14:g.31354610G>A (hg19) ; chr14:g.30885404G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885404G>A , CM000676.2:g.30885404G>A	GRCh38
NC_000014.8:g.31354610G>A , CM000676.1:g.31354610G>A	GRCh37
NC_000014.7:g.30424361G>A	NCBI36
NG_008211.2:g.15870G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.939G>A	ENSP00000216361.5:p.Leu313=
ENST00000396618.9:c.744G>A MANE Select	ENSP00000379862.3:p.Leu248=
ENST00000555117.2:c.801G>A	ENSP00000493569.1:p.Leu267=
ENST00000643575.1:c.744G>A	ENSP00000494838.1:p.Leu248=
ENST00000643697.1:n.1046G>A
ENST00000644874.2:c.744G>A	ENSP00000496360.1:p.Leu248=
ENST00000216361.8:c.744G>A	ENSP00000216361.4:p.Leu248=
ENST00000396618.7:c.744G>A	ENSP00000379862.3:p.Leu248=
ENST00000460581.6:c.408G>A	ENSP00000451713.1:p.Leu136=
ENST00000468826.2:c.395G>A
ENST00000475087.5:c.744G>A	ENSP00000451528.1:p.Leu248=
ENST00000555881.5:c.390G>A	ENSP00000452569.1:p.Leu130=
ENST00000557065.1:c.526G>A	ENSP00000451629.1:n.526G>A
NM_001135058.1:c.744G>A	NP_001128530.1:p.Leu248=
NM_004086.2:c.744G>A	NP_004077.1:p.Leu248=
NR_038356.1:n.1452+9C>T
XM_011536539.1:c.744G>A	XP_011534841.1:p.Leu248=
NM_001347720.1:c.939G>A	NP_001334649.1:p.Leu313=
XM_017021071.1:c.939G>A	XP_016876560.1:p.Leu313=
XM_024449506.1:c.801G>A	XP_024305274.1:p.Leu267=
NM_004086.3:c.744G>A MANE Select	NP_004077.1:p.Leu248=
NM_001135058.2:c.744G>A	NP_001128530.1:p.Leu248=
NM_001347720.2:c.939G>A	NP_001334649.1:p.Leu313=