Canonical Allele Identifier: CA207949

Gene: MYH8 MYHAS

Linked Data

• ClinVar Variation Id: 211567
• ClinVar RCV Id: RCV000194050 ; RCV000210686 ; RCV000953038 ; RCV000989748
• dbSNP Id: rs141215006
• ExAC: 17:10296261 G / C
• gnomAD v2: 17-10296261-G-C
• gnomAD v3: 17-10392944-G-C
• gnomAD v4: 17-10392944-G-C
• MyVariant Identifiers: chr17:g.10296261G>C (hg19) ; chr17:g.10392944G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10392944G>C , CM000679.2:g.10392944G>C	GRCh38
NC_000017.10:g.10296261G>C , CM000679.1:g.10296261G>C	GRCh37
NC_000017.9:g.10236986G>C	NCBI36
NG_013015.1:g.34007C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403437.2:c.5350C>G (MYH8) MANE Select	ENSP00000384330.2:p.Arg1784Gly
NM_002472.2:c.5350C>G (MYH8)	NP_002463.2:p.Arg1784Gly
NR_125367.1:n.76+9737G>C (MYHAS)
XM_011523873.1:c.5446C>G (MYH8)	XP_011522175.1:p.Arg1816Gly
XM_011523874.1:c.5446C>G (MYH8)	XP_011522176.1:p.Arg1816Gly
NM_002472.3:c.5350C>G (MYH8) MANE Select	NP_002463.2:p.Arg1784Gly