Canonical Allele Identifier: CA2612010941

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2847693-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847693C>T , CM000673.2:g.2847693C>T	GRCh38
NC_000011.9:g.2868923C>T , CM000673.1:g.2868923C>T	GRCh37
NC_000011.8:g.2825499C>T	NCBI36
NG_008935.1:g.407703C>T , LRG_287:g.407703C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1438-74C>T (KCNQ1)	ENSP00000434560.2:n.1438-74C>T
ENST00000155840.12:c.1795-74C>T (KCNQ1) MANE Select	ENSP00000155840.2:n.1795-74C>T
ENST00000335475.6:c.1414-74C>T (KCNQ1)	ENSP00000334497.5:n.1414-74C>T
ENST00000526095.2:c.199-74C>T (KCNQ1)	ENSP00000494939.1:n.199-74C>T
ENST00000155840.9:c.1795-74C>T (KCNQ1)	ENSP00000155840.2:n.1795-74C>T
ENST00000335475.5:c.1414-74C>T (KCNQ1)	ENSP00000334497.5:n.1414-74C>T
ENST00000526095.1:n.302-74C>T (KCNQ1)
NM_000218.2:c.1795-74C>T , LRG_287t1:c.1795-74C>T (KCNQ1)	NP_000209.2:n.1795-74C>T
NM_181798.1:c.1414-74C>T , LRG_287t2:c.1414-74C>T (KCNQ1)	NP_861463.1:n.1414-74C>T
NR_130721.1:n.778-7251G>A (KCNQ1-AS1)
NM_000218.3:c.1795-74C>T (KCNQ1) MANE Select	NP_000209.2:n.1795-74C>T