Canonical Allele Identifier: CA389037232
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 850366
ClinVar RCV Id: RCV001054517 RCV004000067
dbSNP Id: rs1555336334
gnomAD v4: 14-23415820-G-A
MyVariant Identifiers: chr14:g.23885029G>A (hg19) chr14:g.23415820G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415820G>A , CM000676.2:g.23415820G>A GRCh38
NC_000014.8:g.23885029G>A , CM000676.1:g.23885029G>A GRCh37
NC_000014.7:g.22954869G>A NCBI36
NG_007884.1:g.24842C>T , LRG_384:g.24842C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4966C>T (MYH7) MANE Select ENSP00000347507.3:p.Gln1656Ter
ENST00000355349.3:c.4966C>T (MYH7) ENSP00000347507.3:p.Gln1656Ter
NM_000257.3:c.4966C>T (MYH7) NP_000248.2:p.Gln1656Ter
NR_126491.1:n.252G>A (MHRT)
XM_017021340.1:c.4966C>T (MYH7) XP_016876829.1:p.Gln1656Ter
NM_000257.4:c.4966C>T (MYH7) MANE Select NP_000248.2:p.Gln1656Ter
Search 100 bp 5'
Search 100 bp 3'