Canonical Allele Identifier: CA6147441

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 305819
• ClinVar RCV Id: RCV000354987 ; RCV000945188
• dbSNP Id: rs774906865
• ExAC: 11:67817717 C / T
• gnomAD v2: 11-67817717-C-T
• gnomAD v3: 11-68050250-C-T
• gnomAD v4: 11-68050250-C-T
• MyVariant Identifiers: chr11:g.67817717C>T (hg19) ; chr11:g.68050250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68050250C>T , CM000673.2:g.68050250C>T	GRCh38
NC_000011.9:g.67817717C>T , CM000673.1:g.67817717C>T	GRCh37
NC_000011.8:g.67574293C>T	NCBI36
NG_007878.1:g.16235C>T , LRG_115:g.16235C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.1225C>T
ENST00000698254.1:c.1761C>T	ENSP00000513629.1:p.His587=
ENST00000698255.1:c.2181C>T	ENSP00000513630.1:p.His727=
ENST00000698256.1:c.1698C>T
ENST00000698257.1:n.1650C>T
ENST00000698258.1:n.1367C>T
ENST00000698259.1:n.1501C>T
ENST00000265686.8:c.2232C>T MANE Select	ENSP00000265686.3:p.His744=
ENST00000265686.7:c.2232C>T	ENSP00000265686.3:p.His744=
ENST00000525724.5:n.1544C>T
ENST00000530063.1:c.135C>T	ENSP00000432957.1:p.His45=
ENST00000530449.1:n.128C>T
ENST00000532635.5:c.1584C>T	ENSP00000434407.1:p.His528=
ENST00000533005.5:n.1345C>T
NM_006019.3:c.2232C>T	NP_006010.2:p.His744=
NM_006053.3:c.1584C>T	NP_006044.1:p.His528=
XM_005273709.2:c.2232C>T	XP_005273766.1:p.His744=
XM_011544726.1:c.2232C>T	XP_011543028.1:p.His744=
XM_011544727.1:c.2232C>T	XP_011543029.1:p.His744=
XR_949754.1:n.2379C>T
NM_001351059.1:c.1338C>T	NP_001337988.1:p.His446=
XM_024448320.1:c.2325C>T	XP_024304088.1:p.His775=
XM_024448321.1:c.2325C>T	XP_024304089.1:p.His775=
XM_024448322.1:c.2325C>T	XP_024304090.1:p.His775=
XM_024448323.1:c.2325C>T	XP_024304091.1:p.His775=
XR_001747721.2:n.2401C>T
XR_001747722.1:n.2369C>T
XR_001747723.2:n.2414C>T
XR_002957115.1:n.2590C>T
NM_006019.4:c.2232C>T MANE Select	NP_006010.2:p.His744=
NM_001351059.2:c.1338C>T	NP_001337988.1:p.His446=
NM_006053.4:c.1584C>T	NP_006044.1:p.His528=