Canonical Allele Identifier: CA379140341

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2847846-C-T
• COSMIC: COSM6373216 ; COSM6373217
• MyVariant Identifiers: chr11:g.2869076C>T (hg19) ; chr11:g.2847846C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847846C>T , CM000673.2:g.2847846C>T	GRCh38
NC_000011.9:g.2869076C>T , CM000673.1:g.2869076C>T	GRCh37
NC_000011.8:g.2825652C>T	NCBI36
NG_008935.1:g.407856C>T , LRG_287:g.407856C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1517C>T (KCNQ1)	ENSP00000434560.2:p.Pro506Leu
ENST00000155840.12:c.1874C>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Pro625Leu
ENST00000335475.6:c.1493C>T (KCNQ1)	ENSP00000334497.5:p.Pro498Leu
ENST00000526095.2:c.278C>T (KCNQ1)	ENSP00000494939.1:p.Pro93Leu
ENST00000155840.9:c.1874C>T (KCNQ1)	ENSP00000155840.2:p.Pro625Leu
ENST00000335475.5:c.1493C>T (KCNQ1)	ENSP00000334497.5:p.Pro498Leu
ENST00000526095.1:n.381C>T (KCNQ1)
NM_000218.2:c.1874C>T , LRG_287t1:c.1874C>T (KCNQ1)	NP_000209.2:p.Pro625Leu
NM_181798.1:c.1493C>T , LRG_287t2:c.1493C>T (KCNQ1)	NP_861463.1:p.Pro498Leu
NR_130721.1:n.778-7404G>A (KCNQ1-AS1)
NM_000218.3:c.1874C>T (KCNQ1) MANE Select	NP_000209.2:p.Pro625Leu