Canonical Allele Identifier: CA551340559

Gene: CWH43

Linked Data

• dbSNP Id: rs1434683927
• gnomAD v2: 4-49062914-C-T
• gnomAD v3: 4-49060897-C-T
• gnomAD v4: 4-49060897-C-T
• MyVariant Identifiers: chr4:g.49062914C>T (hg19) ; chr4:g.49060897C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.49060897C>T , CM000666.2:g.49060897C>T	GRCh38
NC_000004.11:g.49062914C>T , CM000666.1:g.49062914C>T	GRCh37
NC_000004.10:g.48757671C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000226432.9:c.2022-915C>T MANE Select	ENSP00000226432.4:n.2022-915C>T
ENST00000226432.8:c.2022-915C>T	ENSP00000226432.4:n.2022-915C>T
ENST00000513409.1:c.1941-915C>T	ENSP00000422802.1:n.1941-915C>T
ENST00000514053.6:c.*1032-915C>T	ENSP00000425157.2:n.*1032-915C>T
NM_001286791.1:c.1941-915C>T	NP_001273720.1:n.1941-915C>T
NM_025087.2:c.2022-915C>T	NP_079363.2:n.2022-915C>T
XM_011513755.1:c.2079-915C>T	XP_011512057.1:n.2079-915C>T
XM_011513756.1:c.1998-915C>T	XP_011512058.1:n.1998-915C>T
XM_011513757.1:c.1998-915C>T	XP_011512059.1:n.1998-915C>T
XM_011513758.1:c.1821-915C>T	XP_011512060.1:n.1821-915C>T
XM_011513759.1:c.1515-915C>T	XP_011512061.1:n.1515-915C>T
XM_011513756.3:c.1998-915C>T	XP_011512058.1:n.1998-915C>T
XM_011513757.2:c.1998-915C>T	XP_011512059.1:n.1998-915C>T
NM_025087.3:c.2022-915C>T MANE Select	NP_079363.2:n.2022-915C>T
NM_001286791.2:c.1941-915C>T	NP_001273720.1:n.1941-915C>T