Canonical Allele Identifier: CA177151

Gene: MYH9

Linked Data

• ClinVar Variation Id: 164463
• ClinVar RCV Id: RCV000151354
• dbSNP Id: rs727503292
• MyVariant Identifiers: chr22:g.36718542G>A (hg19) ; chr22:g.36322497G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36322497G>A , CM000684.2:g.36322497G>A	GRCh38
NC_000022.10:g.36718542G>A , CM000684.1:g.36718542G>A	GRCh37
NC_000022.9:g.35048488G>A	NCBI36
NG_011884.2:g.70522C>T , LRG_567:g.70522C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000685187.1:n.851C>T
ENST00000685191.1:n.860C>T
ENST00000685801.1:c.637C>T	ENSP00000510688.1:p.Gln213Ter
ENST00000691109.1:n.498C>T
ENST00000691687.1:n.851C>T
ENST00000692930.1:n.851C>T
ENST00000216181.11:c.637C>T MANE Select	ENSP00000216181.6:p.Gln213Ter
ENST00000216181.9:c.637C>T	ENSP00000216181.5:p.Gln213Ter
ENST00000463027.1:n.241C>T
NM_002473.5:c.637C>T , LRG_567t1:c.637C>T	NP_002464.1:p.Gln213Ter
XM_011530197.1:c.637C>T	XP_011528499.1:p.Gln213Ter
XM_011530197.2:c.637C>T	XP_011528499.1:p.Gln213Ter
XM_017028803.1:c.637C>T	XP_016884292.1:p.Gln213Ter
XM_017028804.1:c.637C>T	XP_016884293.1:p.Gln213Ter
XM_017028805.1:c.637C>T	XP_016884294.1:p.Gln213Ter
XM_017028806.1:c.637C>T	XP_016884295.1:p.Gln213Ter
NM_002473.6:c.637C>T MANE Select	NP_002464.1:p.Gln213Ter