Canonical Allele Identifier: CA382440282

Gene: TRPC6

Linked Data

• dbSNP Id: rs1398476278
• gnomAD v2: 11-101344385-G-A
• gnomAD v3: 11-101473654-G-A
• gnomAD v4: 11-101473654-G-A
• MyVariant Identifiers: chr11:g.101344385G>A (hg19) ; chr11:g.101473654G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.101473654G>A , CM000673.2:g.101473654G>A	GRCh38
NC_000011.9:g.101344385G>A , CM000673.1:g.101344385G>A	GRCh37
NC_000011.8:g.100849595G>A	NCBI36
NG_011476.1:g.115275C>T
NG_011476.2:g.115275C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344327.8:c.1864C>T MANE Select	ENSP00000340913.3:p.Pro622Ser
ENST00000344327.7:c.1864C>T	ENSP00000340913.3:p.Pro622Ser
ENST00000348423.8:c.1516C>T	ENSP00000343672.4:p.Pro506Ser
ENST00000360497.4:c.1699C>T	ENSP00000353687.4:p.Pro567Ser
ENST00000532133.5:c.1630C>T	ENSP00000435574.1:p.Pro544Ser
NM_004621.5:c.1864C>T	NP_004612.2:p.Pro622Ser
XM_006718898.2:c.1864C>T	XP_006718961.1:p.Pro622Ser
XM_011542968.1:c.1699C>T	XP_011541270.1:p.Pro567Ser
XM_011542969.1:c.1864C>T	XP_011541271.1:p.Pro622Ser
XM_011542968.3:c.1699C>T	XP_011541270.1:p.Pro567Ser
XM_017018221.2:c.1516C>T	XP_016873710.1:p.Pro506Ser
XR_001747948.2:n.2220C>T
NM_004621.6:c.1864C>T MANE Select	NP_004612.2:p.Pro622Ser