Canonical Allele Identifier: CA8387044
Gene: MYH8 HGNC NCBI
MYHAS HGNC NCBI

Linked Data

ClinVar Variation Id: 321623
ClinVar RCV Id: RCV000338321
dbSNP Id: rs201598997
ExAC: 17:10296176 T / C
gnomAD v2: 17-10296176-T-C
gnomAD v3: 17-10392859-T-C
gnomAD v4: 17-10392859-T-C
COSMIC: COSM2924674
MyVariant Identifiers: chr17:g.10296176T>C (hg19) chr17:g.10392859T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10392859T>C , CM000679.2:g.10392859T>C GRCh38
NC_000017.10:g.10296176T>C , CM000679.1:g.10296176T>C GRCh37
NC_000017.9:g.10236901T>C NCBI36
NG_013015.1:g.34092A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000403437.2:c.5435A>G (MYH8) MANE Select ENSP00000384330.2:p.Lys1812Arg
NM_002472.2:c.5435A>G (MYH8) NP_002463.2:p.Lys1812Arg
NR_125367.1:n.76+9652T>C (MYHAS)
XM_011523873.1:c.5531A>G (MYH8) XP_011522175.1:p.Lys1844Arg
XM_011523874.1:c.5531A>G (MYH8) XP_011522176.1:p.Lys1844Arg
NM_002472.3:c.5435A>G (MYH8) MANE Select NP_002463.2:p.Lys1812Arg
Search 100 bp 5'
Search 100 bp 3'