Canonical Allele Identifier: CA389038770
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 918880
ClinVar RCV Id: RCV001176717 RCV003769885
dbSNP Id: rs1892258263
gnomAD v4: 14-23417288-C-T
MyVariant Identifiers: chr14:g.23886497C>T (hg19) chr14:g.23417288C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417288C>T , CM000676.2:g.23417288C>T GRCh38
NC_000014.8:g.23886497C>T , CM000676.1:g.23886497C>T GRCh37
NC_000014.7:g.22956337C>T NCBI36
NG_007884.1:g.23374G>A , LRG_384:g.23374G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4384G>A (MYH7) MANE Select ENSP00000347507.3:p.Glu1462Lys
ENST00000355349.3:c.4384G>A (MYH7) ENSP00000347507.3:p.Glu1462Lys
NM_000257.3:c.4384G>A (MYH7) NP_000248.2:p.Glu1462Lys
NR_126491.1:n.728C>T (MHRT)
XM_017021340.1:c.4384G>A (MYH7) XP_016876829.1:p.Glu1462Lys
NM_000257.4:c.4384G>A (MYH7) MANE Select NP_000248.2:p.Glu1462Lys
Search 100 bp 5'
Search 100 bp 3'