Canonical Allele Identifier: CA6244038

Gene: TRPC6

Linked Data

• ClinVar Variation Id: 259461
• ClinVar RCV Id: RCV000241771 ; RCV001511843 ; RCV001838579
• dbSNP Id: rs59743346
• ExAC: 11:101323856 TAAG / T
• gnomAD v2: 11-101323856-TAAG-T
• gnomAD v3: 11-101453125-TAAG-T
• gnomAD v4: 11-101453125-TAAG-T
• MyVariant Identifiers: chr11:g.101323857_101323859del (hg19) ; chr11:g.101453127_101453129del (hg38) ; chr11:g.101453126_101453128del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.101453129_101453131del , CM000673.2:g.101453129_101453131del	GRCh38
NC_000011.9:g.101323860_101323862del , CM000673.1:g.101323860_101323862del	GRCh37
NC_000011.8:g.100829070_100829072del	NCBI36
NG_011476.1:g.135801_135803del
NG_011476.2:g.135801_135803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344327.8:c.2645-22_2645-20del MANE Select	ENSP00000340913.3:n.2645-22_2645-20del
ENST00000344327.7:c.2645-22_2645-20del	ENSP00000340913.3:n.2645-22_2645-20del
ENST00000348423.8:c.2297-22_2297-20del	ENSP00000343672.4:n.2297-22_2297-20del
ENST00000360497.4:c.2480-22_2480-20del	ENSP00000353687.4:n.2480-22_2480-20del
ENST00000532133.5:c.2411-22_2411-20del	ENSP00000435574.1:n.2411-22_2411-20del
NM_004621.5:c.2645-22_2645-20del	NP_004612.2:n.2645-22_2645-20del
XM_006718898.2:c.2570-22_2570-20del	XP_006718961.1:n.2570-22_2570-20del
XM_011542968.1:c.2480-22_2480-20del	XP_011541270.1:n.2480-22_2480-20del
XM_011542968.3:c.2480-22_2480-20del	XP_011541270.1:n.2480-22_2480-20del
XM_017018221.2:c.2297-22_2297-20del	XP_016873710.1:n.2297-22_2297-20del
XR_001747948.2:n.3002-22_3002-20del
NM_004621.6:c.2645-22_2645-20del MANE Select	NP_004612.2:n.2645-22_2645-20del