Canonical Allele Identifier: CA1456062966
Gene: CWH43 HGNC NCBI

Linked Data

dbSNP Id: rs879629151

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.49060898G>C , CM000666.2:g.49060898G>C GRCh38
NC_000004.11:g.49062915G>C , CM000666.1:g.49062915G>C GRCh37
NC_000004.10:g.48757672G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000226432.9:c.2022-914G>C MANE Select ENSP00000226432.4:n.2022-914G>C
ENST00000226432.8:c.2022-914G>C ENSP00000226432.4:n.2022-914G>C
ENST00000513409.1:c.1941-914G>C ENSP00000422802.1:n.1941-914G>C
ENST00000514053.6:c.*1032-914G>C ENSP00000425157.2:n.*1032-914G>C
NM_001286791.1:c.1941-914G>C NP_001273720.1:n.1941-914G>C
NM_025087.2:c.2022-914G>C NP_079363.2:n.2022-914G>C
XM_011513755.1:c.2079-914G>C XP_011512057.1:n.2079-914G>C
XM_011513756.1:c.1998-914G>C XP_011512058.1:n.1998-914G>C
XM_011513757.1:c.1998-914G>C XP_011512059.1:n.1998-914G>C
XM_011513758.1:c.1821-914G>C XP_011512060.1:n.1821-914G>C
XM_011513759.1:c.1515-914G>C XP_011512061.1:n.1515-914G>C
XM_011513756.3:c.1998-914G>C XP_011512058.1:n.1998-914G>C
XM_011513757.2:c.1998-914G>C XP_011512059.1:n.1998-914G>C
NM_025087.3:c.2022-914G>C MANE Select NP_079363.2:n.2022-914G>C
NM_001286791.2:c.1941-914G>C NP_001273720.1:n.1941-914G>C