Canonical Allele Identifier: CA96760313

Gene: CWH43

Linked Data

• dbSNP Id: rs992761112
• gnomAD v2: 4-49062902-T-G
• gnomAD v3: 4-49060885-T-G
• gnomAD v4: 4-49060885-T-G
• MyVariant Identifiers: chr4:g.49062902T>G (hg19) ; chr4:g.49060885T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.49060885T>G , CM000666.2:g.49060885T>G	GRCh38
NC_000004.11:g.49062902T>G , CM000666.1:g.49062902T>G	GRCh37
NC_000004.10:g.48757659T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000226432.9:c.2022-927T>G MANE Select	ENSP00000226432.4:n.2022-927T>G
ENST00000226432.8:c.2022-927T>G	ENSP00000226432.4:n.2022-927T>G
ENST00000513409.1:c.1941-927T>G	ENSP00000422802.1:n.1941-927T>G
ENST00000514053.6:c.*1032-927T>G	ENSP00000425157.2:n.*1032-927T>G
NM_001286791.1:c.1941-927T>G	NP_001273720.1:n.1941-927T>G
NM_025087.2:c.2022-927T>G	NP_079363.2:n.2022-927T>G
XM_011513755.1:c.2079-927T>G	XP_011512057.1:n.2079-927T>G
XM_011513756.1:c.1998-927T>G	XP_011512058.1:n.1998-927T>G
XM_011513757.1:c.1998-927T>G	XP_011512059.1:n.1998-927T>G
XM_011513758.1:c.1821-927T>G	XP_011512060.1:n.1821-927T>G
XM_011513759.1:c.1515-927T>G	XP_011512061.1:n.1515-927T>G
XM_011513756.3:c.1998-927T>G	XP_011512058.1:n.1998-927T>G
XM_011513757.2:c.1998-927T>G	XP_011512059.1:n.1998-927T>G
NM_025087.3:c.2022-927T>G MANE Select	NP_079363.2:n.2022-927T>G
NM_001286791.2:c.1941-927T>G	NP_001273720.1:n.1941-927T>G