Canonical Allele Identifier: CA10652708

Gene: MYH14

Linked Data

• ClinVar Variation Id: 329901
• ClinVar RCV Id: RCV000316591
• dbSNP Id: rs778355560
• gnomAD v2: 19-50706936-C-A
• gnomAD v3: 19-50203679-C-A
• gnomAD v4: 19-50203679-C-A
• MyVariant Identifiers: chr19:g.50706936C>A (hg19) ; chr19:g.50203679C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50203679C>A , CM000681.2:g.50203679C>A	GRCh38
NC_000019.9:g.50706936C>A , CM000681.1:g.50706936C>A	GRCh37
NC_000019.8:g.55398748C>A	NCBI36
NG_011645.1:g.5052C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425460.6:c.-4+8C>A	ENSP00000407879.1:n.-4+8C>A
ENST00000642316.2:c.-4+8C>A MANE Select	ENSP00000493594.1:n.-4+8C>A
ENST00000646861.1:c.-4+8C>A	ENSP00000493667.1:n.-4+8C>A
ENST00000376970.6:c.-4+8C>A	ENSP00000366169.3:n.-4+8C>A
ENST00000425460.5:c.-4+8C>A	ENSP00000407879.1:n.-4+8C>A
ENST00000440075.6:c.-2172+8C>A	ENSP00000406273.3:n.-2172+8C>A
ENST00000598205.5:c.-3-6684C>A	ENSP00000472543.1:n.-3-6684C>A
ENST00000599920.5:c.-4+8C>A	ENSP00000469573.1:n.-4+8C>A
ENST00000601313.5:c.-4+8C>A	ENSP00000470298.1:n.-4+8C>A
NM_001077186.1:c.-4+8C>A	NP_001070654.1:n.-4+8C>A
NM_001145809.1:c.-4+8C>A	NP_001139281.1:n.-4+8C>A
NM_024729.3:c.-4+8C>A	NP_079005.3:n.-4+8C>A
XM_011527320.1:c.118-6684C>A	XP_011525622.1:n.118-6684C>A
XM_011527321.1:c.118-6684C>A	XP_011525623.1:n.118-6684C>A
XM_011527322.1:c.118-6684C>A	XP_011525624.1:n.118-6684C>A
XM_011527320.2:c.118-6684C>A	XP_011525622.1:n.118-6684C>A
XM_011527321.2:c.118-6684C>A	XP_011525623.1:n.118-6684C>A
NM_001077186.2:c.-4+8C>A	NP_001070654.1:n.-4+8C>A
NM_001145809.2:c.-4+8C>A MANE Select	NP_001139281.1:n.-4+8C>A
NM_024729.4:c.-4+8C>A	NP_079005.3:n.-4+8C>A