Canonical Allele Identifier: CA389043512
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1174831
ClinVar RCV Id: RCV001528971 RCV004008913
dbSNP Id: rs2138654006
gnomAD v3: 14-23420021-G-A
gnomAD v4: 14-23420021-G-A
MyVariant Identifiers: chr14:g.23889230G>A (hg19) chr14:g.23420021G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420021G>A , CM000676.2:g.23420021G>A GRCh38
NC_000014.8:g.23889230G>A , CM000676.1:g.23889230G>A GRCh37
NC_000014.7:g.22959070G>A NCBI36
NG_007884.1:g.20641C>T , LRG_384:g.20641C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3550C>T MANE Select ENSP00000347507.3:p.Gln1184Ter
ENST00000355349.3:c.3550C>T ENSP00000347507.3:p.Gln1184Ter
NM_000257.3:c.3550C>T NP_000248.2:p.Gln1184Ter
XM_017021340.1:c.3550C>T XP_016876829.1:p.Gln1184Ter
NM_000257.4:c.3550C>T MANE Select NP_000248.2:p.Gln1184Ter
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