Canonical Allele Identifier: CA398122914

Gene: MYH8 MYHAS

Linked Data

• dbSNP Id: rs151091483
• gnomAD v2: 17-10312678-A-C
• gnomAD v4: 17-10409361-A-C
• MyVariant Identifiers: chr17:g.10312678A>C (hg19) ; chr17:g.10312678_10312690delinsCTTCAGGGGGTCC (hg19) ; chr17:g.10409361A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10409361A>C , CM000679.2:g.10409361A>C	GRCh38
NC_000017.10:g.10312678A>C , CM000679.1:g.10312678A>C	GRCh37
NC_000017.9:g.10253403A>C	NCBI36
NG_013015.1:g.17590T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000403437.2:c.1815T>G (MYH8) MANE Select	ENSP00000384330.2:p.Asn605Lys
NM_002472.2:c.1815T>G (MYH8)	NP_002463.2:p.Asn605Lys
NR_125367.1:n.167+3123A>C (MYHAS)
XM_011523873.1:c.1815T>G (MYH8)	XP_011522175.1:p.Asn605Lys
XM_011523874.1:c.1815T>G (MYH8)	XP_011522176.1:p.Asn605Lys
NM_002472.3:c.1815T>G (MYH8) MANE Select	NP_002463.2:p.Asn605Lys