Canonical Allele Identifier: CA216359851

Gene: KCNQ1

Linked Data

• dbSNP Id: rs796594234
• gnomAD v2: 11-2844156-T-TTA
• gnomAD v3: 11-2822926-T-TTA
• gnomAD v4: 11-2822926-T-TTA
• MyVariant Identifiers: chr11:g.2844156_2844157insTA (hg19) ; chr11:g.2844157_2844158delinsTAAA (hg19) ; chr11:g.2822926_2822927insTA (hg38) ; chr11:g.2822927_2822928delinsTAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2822926_2822927insTA , CM000673.2:g.2822926_2822927insTA	GRCh38
NC_000011.9:g.2844156_2844157insTA , CM000673.1:g.2844156_2844157insTA	GRCh37
NC_000011.8:g.2800732_2800733insTA	NCBI36
NG_008935.1:g.382936_382937insTA , LRG_287:g.382936_382937insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1438-24841_1438-24840insTA	ENSP00000434560.2:n.1438-24841_1438-24840insTA
ENST00000646564.2:c.1255-16790_1255-16789insTA	ENSP00000495806.2:n.1255-16790_1255-16789insTA
ENST00000155840.12:c.1795-24841_1795-24840insTA MANE Select	ENSP00000155840.2:n.1795-24841_1795-24840insTA
ENST00000335475.6:c.1414-24841_1414-24840insTA	ENSP00000334497.5:n.1414-24841_1414-24840insTA
ENST00000526095.2:c.199-24841_199-24840insTA	ENSP00000494939.1:n.199-24841_199-24840insTA
ENST00000646564.1:c.901-16790_901-16789insTA	ENSP00000495806.1:n.901-16790_901-16789insTA
ENST00000155840.9:c.1795-24841_1795-24840insTA	ENSP00000155840.2:n.1795-24841_1795-24840insTA
ENST00000335475.5:c.1414-24841_1414-24840insTA	ENSP00000334497.5:n.1414-24841_1414-24840insTA
ENST00000526095.1:n.302-24841_302-24840insTA
NM_000218.2:c.1795-24841_1795-24840insTA , LRG_287t1:c.1795-24841_1795-24840insTA	NP_000209.2:n.1795-24841_1795-24840insTA
NM_181798.1:c.1414-24841_1414-24840insTA , LRG_287t2:c.1414-24841_1414-24840insTA	NP_861463.1:n.1414-24841_1414-24840insTA
NM_000218.3:c.1795-24841_1795-24840insTA MANE Select	NP_000209.2:n.1795-24841_1795-24840insTA