Canonical Allele Identifier: CA476546535
Gene: TRPC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.101344455A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.101473724A>C , CM000673.2:g.101473724A>C GRCh38
NC_000011.9:g.101344455A>C , CM000673.1:g.101344455A>C GRCh37
NC_000011.8:g.100849665A>C NCBI36
NG_011476.1:g.115205T>G
NG_011476.2:g.115205T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344327.8:c.1794T>G MANE Select ENSP00000340913.3:p.Leu598=
ENST00000344327.7:c.1794T>G ENSP00000340913.3:p.Leu598=
ENST00000348423.8:c.1446T>G ENSP00000343672.4:p.Leu482=
ENST00000360497.4:c.1629T>G ENSP00000353687.4:p.Leu543=
ENST00000532133.5:c.1560T>G ENSP00000435574.1:p.Leu520=
NM_004621.5:c.1794T>G NP_004612.2:p.Leu598=
XM_006718898.2:c.1794T>G XP_006718961.1:p.Leu598=
XM_011542968.1:c.1629T>G XP_011541270.1:p.Leu543=
XM_011542969.1:c.1794T>G XP_011541271.1:p.Leu598=
XM_011542968.3:c.1629T>G XP_011541270.1:p.Leu543=
XM_017018221.2:c.1446T>G XP_016873710.1:p.Leu482=
XR_001747948.2:n.2150T>G
NM_004621.6:c.1794T>G MANE Select NP_004612.2:p.Leu598=