Canonical Allele Identifier: CA389037603
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 1399659
ClinVar RCV Id: RCV001922847 RCV003130586
dbSNP Id: rs2138642131
MyVariant Identifiers: chr14:g.23885364A>G (hg19) chr14:g.23416155A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416155A>G , CM000676.2:g.23416155A>G GRCh38
NC_000014.8:g.23885364A>G , CM000676.1:g.23885364A>G GRCh37
NC_000014.7:g.22955204A>G NCBI36
NG_007884.1:g.24507T>C , LRG_384:g.24507T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4802T>C (MYH7) MANE Select ENSP00000347507.3:p.Leu1601Pro
ENST00000355349.3:c.4802T>C (MYH7) ENSP00000347507.3:p.Leu1601Pro
NM_000257.3:c.4802T>C (MYH7) NP_000248.2:p.Leu1601Pro
NR_126491.1:n.416A>G (MHRT)
XM_017021340.1:c.4802T>C (MYH7) XP_016876829.1:p.Leu1601Pro
NM_000257.4:c.4802T>C (MYH7) MANE Select NP_000248.2:p.Leu1601Pro
Search 100 bp 5'
Search 100 bp 3'