Canonical Allele Identifier: CA389037058
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 3070077
ClinVar RCV Id: RCV004010109
dbSNP Id: rs761548214
gnomAD v3: 14-23415733-G-T
gnomAD v4: 14-23415733-G-T
MyVariant Identifiers: chr14:g.23884942G>T (hg19) chr14:g.23415733G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415733G>T , CM000676.2:g.23415733G>T GRCh38
NC_000014.8:g.23884942G>T , CM000676.1:g.23884942G>T GRCh37
NC_000014.7:g.22954782G>T NCBI36
NG_007884.1:g.24929C>A , LRG_384:g.24929C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5053C>A (MYH7) MANE Select ENSP00000347507.3:p.Leu1685Met
ENST00000355349.3:c.5053C>A (MYH7) ENSP00000347507.3:p.Leu1685Met
NM_000257.3:c.5053C>A (MYH7) NP_000248.2:p.Leu1685Met
NR_126491.1:n.165G>T (MHRT)
XM_017021340.1:c.5053C>A (MYH7) XP_016876829.1:p.Leu1685Met
NM_000257.4:c.5053C>A (MYH7) MANE Select NP_000248.2:p.Leu1685Met
Search 100 bp 5'
Search 100 bp 3'