Canonical Allele Identifier: CA040456
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 926165
ClinVar RCV Id: RCV001188562 RCV001458469
dbSNP Id: rs369420587
ExAC: 14:23887457 C / A
gnomAD v2: 14-23887457-C-A
gnomAD v3: 14-23418248-C-A
gnomAD v4: 14-23418248-C-A
MyVariant Identifiers: chr14:g.23887457C>A (hg19) chr14:g.23418248C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23418248C>A , CM000676.2:g.23418248C>A GRCh38
NC_000014.8:g.23887457C>A , CM000676.1:g.23887457C>A GRCh37
NC_000014.7:g.22957297C>A NCBI36
NG_007884.1:g.22414G>T , LRG_384:g.22414G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.4131G>T MANE Select ENSP00000347507.3:p.Thr1377=
ENST00000355349.3:c.4131G>T ENSP00000347507.3:p.Thr1377=
NM_000257.3:c.4131G>T NP_000248.2:p.Thr1377=
XM_017021340.1:c.4131G>T XP_016876829.1:p.Thr1377=
NM_000257.4:c.4131G>T MANE Select NP_000248.2:p.Thr1377=
Search 100 bp 5'
Search 100 bp 3'