Canonical Allele Identifier: CA028331
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 510607
ClinVar RCV Id: RCV000866247 RCV001186688 RCV001697854 RCV002395579
dbSNP Id: rs140218676
ExAC: 14:23898167 G / A
gnomAD v2: 14-23898167-G-A
gnomAD v3: 14-23428958-G-A
gnomAD v4: 14-23428958-G-A
COSMIC: COSM3495242
MyVariant Identifiers: chr14:g.23898167G>A (hg19) chr14:g.23428958G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428958G>A , CM000676.2:g.23428958G>A GRCh38
NC_000014.8:g.23898167G>A , CM000676.1:g.23898167G>A GRCh37
NC_000014.7:g.22968007G>A NCBI36
NG_007884.1:g.11704C>T , LRG_384:g.11704C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1404C>T MANE Select ENSP00000347507.3:p.Phe468=
ENST00000355349.3:c.1404C>T ENSP00000347507.3:p.Phe468=
NM_000257.3:c.1404C>T NP_000248.2:p.Phe468=
XR_245686.3:n.1510C>T
XM_017021340.1:c.1404C>T XP_016876829.1:p.Phe468=
NM_000257.4:c.1404C>T MANE Select NP_000248.2:p.Phe468=
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Search 100 bp 3'