Canonical Allele Identifier: CA014602

Gene: MYH7

Linked Data

• ClinVar Variation Id: 42996
• ClinVar RCV Id: RCV000035890 ; RCV000629162 ; RCV001540224 ; RCV001525526 ; RCV002326725 ; RCV002477075 ; RCV004534747
• dbSNP Id: rs200852418
• ExAC: 14:23886877 C / A
• gnomAD v2: 14-23886877-C-A
• gnomAD v3: 14-23417668-C-A
• gnomAD v4: 14-23417668-C-A
• MyVariant Identifiers: chr14:g.23886877C>A (hg19) ; chr14:g.23417668C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23417668C>A , CM000676.2:g.23417668C>A	GRCh38
NC_000014.8:g.23886877C>A , CM000676.1:g.23886877C>A	GRCh37
NC_000014.7:g.22956717C>A	NCBI36
NG_007884.1:g.22994G>T , LRG_384:g.22994G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4188G>T MANE Select	ENSP00000347507.3:p.Arg1396=
ENST00000355349.3:c.4188G>T	ENSP00000347507.3:p.Arg1396=
NM_000257.3:c.4188G>T	NP_000248.2:p.Arg1396=
XM_017021340.1:c.4188G>T	XP_016876829.1:p.Arg1396=
NM_000257.4:c.4188G>T MANE Select	NP_000248.2:p.Arg1396=