Canonical Allele Identifier: CA382440414

Gene: TRPC6

Linked Data

• gnomAD v4: 11-101473711-C-G
• MyVariant Identifiers: chr11:g.101344442C>G (hg19) ; chr11:g.101473711C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.101473711C>G , CM000673.2:g.101473711C>G	GRCh38
NC_000011.9:g.101344442C>G , CM000673.1:g.101344442C>G	GRCh37
NC_000011.8:g.100849652C>G	NCBI36
NG_011476.1:g.115218G>C
NG_011476.2:g.115218G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344327.8:c.1807G>C MANE Select	ENSP00000340913.3:p.Val603Leu
ENST00000344327.7:c.1807G>C	ENSP00000340913.3:p.Val603Leu
ENST00000348423.8:c.1459G>C	ENSP00000343672.4:p.Val487Leu
ENST00000360497.4:c.1642G>C	ENSP00000353687.4:p.Val548Leu
ENST00000532133.5:c.1573G>C	ENSP00000435574.1:p.Val525Leu
NM_004621.5:c.1807G>C	NP_004612.2:p.Val603Leu
XM_006718898.2:c.1807G>C	XP_006718961.1:p.Val603Leu
XM_011542968.1:c.1642G>C	XP_011541270.1:p.Val548Leu
XM_011542969.1:c.1807G>C	XP_011541271.1:p.Val603Leu
XM_011542968.3:c.1642G>C	XP_011541270.1:p.Val548Leu
XM_017018221.2:c.1459G>C	XP_016873710.1:p.Val487Leu
XR_001747948.2:n.2163G>C
NM_004621.6:c.1807G>C MANE Select	NP_004612.2:p.Val603Leu