Canonical Allele Identifier: CA389349556

Gene: COCH

Linked Data

• ClinVar Variation Id: 1507984
• ClinVar RCV Id: RCV002040300
• dbSNP Id: rs2138897496
• MyVariant Identifiers: chr14:g.31358881G>C (hg19) ; chr14:g.30889675G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889675G>C , CM000676.2:g.30889675G>C	GRCh38
NC_000014.8:g.31358881G>C , CM000676.1:g.31358881G>C	GRCh37
NC_000014.7:g.30428632G>C	NCBI36
NG_008211.2:g.20141G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.1732G>C	ENSP00000216361.5:p.Ala578Pro
ENST00000396618.9:c.1537G>C MANE Select	ENSP00000379862.3:p.Ala513Pro
ENST00000555117.2:c.1534+3363G>C	ENSP00000493569.1:n.1534+3363G>C
ENST00000643575.1:c.1537G>C	ENSP00000494838.1:p.Ala513Pro
ENST00000643697.1:n.1839G>C
ENST00000644874.2:c.1537G>C	ENSP00000496360.1:p.Ala513Pro
ENST00000216361.8:c.1537G>C	ENSP00000216361.4:p.Ala513Pro
ENST00000396618.7:c.1537G>C	ENSP00000379862.3:p.Ala513Pro
ENST00000460581.6:c.1201G>C	ENSP00000451713.1:p.Ala401Pro
ENST00000468826.2:c.1188G>C
ENST00000475087.5:c.1477+3363G>C	ENSP00000451528.1:n.1477+3363G>C
NM_001135058.1:c.1537G>C	NP_001128530.1:p.Ala513Pro
NM_004086.2:c.1537G>C	NP_004077.1:p.Ala513Pro
NR_038356.1:n.134C>G
XM_011536539.1:c.1537G>C	XP_011534841.1:p.Ala513Pro
NM_001347720.1:c.1732G>C	NP_001334649.1:p.Ala578Pro
XM_017021071.1:c.1732G>C	XP_016876560.1:p.Ala578Pro
XM_024449506.1:c.1594G>C	XP_024305274.1:p.Ala532Pro
NM_004086.3:c.1537G>C MANE Select	NP_004077.1:p.Ala513Pro
NM_001135058.2:c.1537G>C	NP_001128530.1:p.Ala513Pro
NM_001347720.2:c.1732G>C	NP_001334649.1:p.Ala578Pro