Canonical Allele Identifier: CA141500138

Gene: KCNQ5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73077869T>C , CM000668.2:g.73077869T>C	GRCh38
NC_000006.11:g.73787592T>C , CM000668.1:g.73787592T>C	GRCh37
NC_000006.10:g.73844313T>C	NCBI36
NG_047170.1:g.461590T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_019842.4:c.900T>C MANE Select	NP_062816.2:p.Asp300=
ENST00000370398.6:c.900T>C MANE Select	ENSP00000359425.1:p.Asp300=
NM_001160130.1:c.900T>C	NP_001153602.1:p.Asp300=
NM_001160130.2:c.900T>C	NP_001153602.1:p.Asp300=
NM_001160132.1:c.900T>C	NP_001153604.1:p.Asp300=
NM_001160132.2:c.900T>C	NP_001153604.1:p.Asp300=
NM_001160133.1:c.900T>C	NP_001153605.1:p.Asp300=
NM_001160133.2:c.900T>C	NP_001153605.1:p.Asp300=
NM_001160134.1:c.900T>C	NP_001153606.1:p.Asp300=
NM_001160134.2:c.900T>C	NP_001153606.1:p.Asp300=
NM_019842.3:c.900T>C	NP_062816.2:p.Asp300=
ENST00000342056.6:c.900T>C	ENSP00000345055.2:p.Asp300=
ENST00000355194.8:c.900T>C	ENSP00000347326.4:p.Asp300=
ENST00000355194.9:c.900T>C	ENSP00000347326.5:p.Asp300=
ENST00000355635.7:c.900T>C	ENSP00000347853.4:p.Asp300=
ENST00000370392.5:c.900T>C	ENSP00000359419.1:p.Asp300=
ENST00000370398.5:c.900T>C	ENSP00000359425.1:p.Asp300=
ENST00000402622.6:c.900T>C	ENSP00000385501.3:p.Asp300=
ENST00000403813.6:c.900T>C	ENSP00000384453.3:p.Asp300=
ENST00000414165.6:c.900T>C	ENSP00000409861.3:p.Asp300=
ENST00000628967.2:c.900T>C	ENSP00000486187.1:p.Asp300=
ENST00000629977.2:c.900T>C	ENSP00000485743.1:p.Asp300=
XM_011535944.1:c.900T>C	XP_011534246.1:p.Asp300=
XM_017011058.1:c.900T>C	XP_016866547.1:p.Asp300=
XM_024446492.1:c.900T>C	XP_024302260.1:p.Asp300=
XM_024446493.1:c.900T>C	XP_024302261.1:p.Asp300=