Canonical Allele Identifier: CA1062054735

Gene: CWH43

Linked Data

• dbSNP Id: rs1785136344
• gnomAD v3: 4-49060906-G-C
• gnomAD v4: 4-49060906-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.49060906G>C , CM000666.2:g.49060906G>C	GRCh38
NC_000004.11:g.49062923G>C , CM000666.1:g.49062923G>C	GRCh37
NC_000004.10:g.48757680G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226432.9:c.2022-906G>C MANE Select	ENSP00000226432.4:n.2022-906G>C
ENST00000226432.8:c.2022-906G>C	ENSP00000226432.4:n.2022-906G>C
ENST00000513409.1:c.1941-906G>C	ENSP00000422802.1:n.1941-906G>C
ENST00000514053.6:c.*1032-906G>C	ENSP00000425157.2:n.*1032-906G>C
NM_001286791.1:c.1941-906G>C	NP_001273720.1:n.1941-906G>C
NM_025087.2:c.2022-906G>C	NP_079363.2:n.2022-906G>C
XM_011513755.1:c.2079-906G>C	XP_011512057.1:n.2079-906G>C
XM_011513756.1:c.1998-906G>C	XP_011512058.1:n.1998-906G>C
XM_011513757.1:c.1998-906G>C	XP_011512059.1:n.1998-906G>C
XM_011513758.1:c.1821-906G>C	XP_011512060.1:n.1821-906G>C
XM_011513759.1:c.1515-906G>C	XP_011512061.1:n.1515-906G>C
XM_011513756.3:c.1998-906G>C	XP_011512058.1:n.1998-906G>C
XM_011513757.2:c.1998-906G>C	XP_011512059.1:n.1998-906G>C
NM_025087.3:c.2022-906G>C MANE Select	NP_079363.2:n.2022-906G>C
NM_001286791.2:c.1941-906G>C	NP_001273720.1:n.1941-906G>C