Canonical Allele Identifier: CA043793
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 2719647
ClinVar RCV Id: RCV003587016 RCV004536846
dbSNP Id: rs761723774
ExAC: 14:23885396 G / A
gnomAD v2: 14-23885396-G-A
gnomAD v3: 14-23416187-G-A
gnomAD v4: 14-23416187-G-A
MyVariant Identifiers: chr14:g.23885396G>A (hg19) chr14:g.23416187G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416187G>A , CM000676.2:g.23416187G>A GRCh38
NC_000014.8:g.23885396G>A , CM000676.1:g.23885396G>A GRCh37
NC_000014.7:g.22955236G>A NCBI36
NG_007884.1:g.24475C>T , LRG_384:g.24475C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4770C>T (MYH7) MANE Select ENSP00000347507.3:p.His1590=
ENST00000355349.3:c.4770C>T (MYH7) ENSP00000347507.3:p.His1590=
NM_000257.3:c.4770C>T (MYH7) NP_000248.2:p.His1590=
NR_126491.1:n.448G>A (MHRT)
XM_017021340.1:c.4770C>T (MYH7) XP_016876829.1:p.His1590=
NM_000257.4:c.4770C>T (MYH7) MANE Select NP_000248.2:p.His1590=
Search 100 bp 5'
Search 100 bp 3'