Canonical Allele Identifier: CA2697587

Gene: LRRC34

Linked Data

• ClinVar Variation Id: 1431953
• ClinVar RCV Id: RCV001941015
• dbSNP Id: rs143470723
• ExAC: 3:169514551 C / T
• gnomAD v2: 3-169514551-C-T
• gnomAD v3: 3-169796763-C-T
• gnomAD v4: 3-169796763-C-T
• COSMIC: COSM1040987
• MyVariant Identifiers: chr3:g.169514551C>T (hg19) ; chr3:g.169796763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169796763C>T , CM000665.2:g.169796763C>T	GRCh38
NC_000003.11:g.169514551C>T , CM000665.1:g.169514551C>T	GRCh37
NC_000003.10:g.170997245C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446859.7:c.890G>A MANE Select	ENSP00000414635.1:p.Arg297His
ENST00000446859.5:c.890G>A	ENSP00000414635.1:p.Arg297His
ENST00000522080.5:n.867G>A
ENST00000522329.1:n.139G>A
ENST00000522526.6:c.794G>A	ENSP00000429278.2:p.Arg265His
ENST00000522596.6:n.872G>A
ENST00000522830.5:c.707G>A	ENSP00000429593.1:p.Arg236His
ENST00000524054.5:n.738G>A
ENST00000524327.5:n.690G>A
ENST00000528597.1:c.137G>A	ENSP00000436883.1:p.Arg46His
ENST00000602774.1:n.276G>A
NM_001172779.1:c.890G>A	NP_001166250.1:p.Arg297His
NM_001172780.1:c.890G>A	NP_001166251.1:p.Arg297His
NM_153353.4:c.794G>A	NP_699184.2:p.Arg265His
XM_005247133.2:c.707G>A	XP_005247190.1:p.Arg236His
XM_006713508.2:c.836G>A	XP_006713571.1:p.Arg279His
XM_011512442.1:c.887G>A	XP_011510744.1:p.Arg296His
NM_001363888.1:c.707G>A	NP_001350817.1:p.Arg236His
XM_006713508.4:c.836G>A	XP_006713571.1:p.Arg279His
XM_011512442.2:c.887G>A	XP_011510744.1:p.Arg296His
XM_017005746.1:c.704G>A	XP_016861235.1:p.Arg235His
NM_001172779.2:c.890G>A MANE Select	NP_001166250.1:p.Arg297His
NM_001172780.2:c.890G>A	NP_001166251.1:p.Arg297His
NM_001363888.2:c.707G>A	NP_001350817.1:p.Arg236His
NM_001370608.1:c.704G>A	NP_001357537.1:p.Arg235His
NM_001370609.1:c.707G>A	NP_001357538.1:p.Arg236His
NM_153353.5:c.794G>A	NP_699184.2:p.Arg265His