Canonical Allele Identifier: CA10210473

Gene: MYH9

Linked Data

• ClinVar Variation Id: 258767
• ClinVar RCV Id: RCV000250778
• dbSNP Id: rs189826975
• ExAC: 22:36717773 G / T
• gnomAD v2: 22-36717773-G-T
• gnomAD v3: 22-36321728-G-T
• gnomAD v4: 22-36321728-G-T
• MyVariant Identifiers: chr22:g.36717773G>T (hg19) ; chr22:g.36321728G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36321728G>T , CM000684.2:g.36321728G>T	GRCh38
NC_000022.10:g.36717773G>T , CM000684.1:g.36717773G>T	GRCh37
NC_000022.9:g.35047719G>T	NCBI36
NG_011884.2:g.71291C>A , LRG_567:g.71291C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685187.1:n.983+30C>A
ENST00000685191.1:n.1022C>A
ENST00000685801.1:c.769+30C>A	ENSP00000510688.1:n.769+30C>A
ENST00000691109.1:n.630+30C>A
ENST00000691687.1:n.983+30C>A
ENST00000692930.1:n.983+30C>A
ENST00000216181.11:c.769+30C>A MANE Select	ENSP00000216181.6:n.769+30C>A
ENST00000216181.9:c.769+30C>A	ENSP00000216181.5:n.769+30C>A
ENST00000463027.1:n.373+30C>A
ENST00000472210.5:n.165+30C>A
NM_002473.5:c.769+30C>A , LRG_567t1:c.769+30C>A	NP_002464.1:n.769+30C>A
XM_011530197.1:c.769+30C>A	XP_011528499.1:n.769+30C>A
XM_011530197.2:c.769+30C>A	XP_011528499.1:n.769+30C>A
XM_017028803.1:c.769+30C>A	XP_016884292.1:n.769+30C>A
XM_017028804.1:c.769+30C>A	XP_016884293.1:n.769+30C>A
XM_017028805.1:c.769+30C>A	XP_016884294.1:n.769+30C>A
XM_017028806.1:c.769+30C>A	XP_016884295.1:n.769+30C>A
NM_002473.6:c.769+30C>A MANE Select	NP_002464.1:n.769+30C>A