Canonical Allele Identifier: CA16606945

Gene: MYH7

Linked Data

• ClinVar Variation Id: 379003
• ClinVar RCV Id: RCV000629145 ; RCV001805042 ; RCV002502490 ; RCV000439485
• dbSNP Id: rs933857323
• gnomAD v3: 14-23420970-G-A
• gnomAD v4: 14-23420970-G-A
• MyVariant Identifiers: chr14:g.23890179G>A (hg19) ; chr14:g.23420970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23420970G>A , CM000676.2:g.23420970G>A	GRCh38
NC_000014.8:g.23890179G>A , CM000676.1:g.23890179G>A	GRCh37
NC_000014.7:g.22960019G>A	NCBI36
NG_007884.1:g.19692C>T , LRG_384:g.19692C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3324C>T MANE Select	ENSP00000347507.3:p.Leu1108=
ENST00000355349.3:c.3324C>T	ENSP00000347507.3:p.Leu1108=
NM_000257.3:c.3324C>T	NP_000248.2:p.Leu1108=
XR_245686.3:n.3432C>T
XM_017021340.1:c.3324C>T	XP_016876829.1:p.Leu1108=
NM_000257.4:c.3324C>T MANE Select	NP_000248.2:p.Leu1108=