Canonical Allele Identifier: CA027576

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 923415
• ClinVar RCV Id: RCV001843204 ; RCV001455505 ; RCV002339464
• dbSNP Id: rs764870839
• ExAC: 11:2608856 C / T
• gnomAD v2: 11-2608856-C-T
• gnomAD v3: 11-2587626-C-T
• gnomAD v4: 11-2587626-C-T
• MyVariant Identifiers: chr11:g.2608856C>T (hg19) ; chr11:g.2587626C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587626C>T , CM000673.2:g.2587626C>T	GRCh38
NC_000011.9:g.2608856C>T , CM000673.1:g.2608856C>T	GRCh37
NC_000011.8:g.2565432C>T	NCBI36
NG_008935.1:g.147636C>T , LRG_287:g.147636C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.828C>T	ENSP00000434560.2:p.Tyr276=
ENST00000646564.2:c.645C>T	ENSP00000495806.2:p.Tyr215=
ENST00000155840.12:c.1185C>T MANE Select	ENSP00000155840.2:p.Tyr395=
ENST00000335475.6:c.804C>T	ENSP00000334497.5:p.Tyr268=
ENST00000646564.1:c.291C>T	ENSP00000495806.1:p.Tyr97=
ENST00000155840.9:c.1185C>T	ENSP00000155840.2:p.Tyr395=
ENST00000335475.5:c.804C>T	ENSP00000334497.5:p.Tyr268=
NM_000218.2:c.1185C>T , LRG_287t1:c.1185C>T	NP_000209.2:p.Tyr395=
NM_181798.1:c.804C>T , LRG_287t2:c.804C>T	NP_861463.1:p.Tyr268=
NM_000218.3:c.1185C>T MANE Select	NP_000209.2:p.Tyr395=