Canonical Allele Identifier: CA011229

Gene: MYH7

Linked Data

• ClinVar Variation Id: 42864
• ClinVar RCV Id: RCV000035746 ; RCV000206182 ; RCV000249470 ; RCV000330727 ; RCV000389702 ; RCV000317838 ; RCV000758068 ; RCV001094191 ; RCV001811243 ; RCV002482965 ; RCV003320048
• dbSNP Id: rs3729816
• ExAC: 14:23896915 G / A
• gnomAD v2: 14-23896915-G-A
• gnomAD v3: 14-23427706-G-A
• gnomAD v4: 14-23427706-G-A
• MyVariant Identifiers: chr14:g.23896915G>A (hg19) ; chr14:g.23427706G>A (hg38)
• ERepo: CA011229/MONDO:0004994/002
• PubMed: PMID:29300372

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23427706G>A , CM000676.2:g.23427706G>A	GRCh38
NC_000014.8:g.23896915G>A , CM000676.1:g.23896915G>A	GRCh37
NC_000014.7:g.22966755G>A	NCBI36
NG_007884.1:g.12956C>T , LRG_384:g.12956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.1767C>T MANE Select	ENSP00000347507.3:p.Asn589=
ENST00000355349.3:c.1767C>T	ENSP00000347507.3:p.Asn589=
NM_000257.3:c.1767C>T	NP_000248.2:p.Asn589=
XR_245686.3:n.1873C>T
XM_017021340.1:c.1767C>T	XP_016876829.1:p.Asn589=
NM_000257.4:c.1767C>T MANE Select	NP_000248.2:p.Asn589=