Canonical Allele Identifier: CA389037139
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 1478939
ClinVar RCV Id: RCV001974421
dbSNP Id: rs1456418703
MyVariant Identifiers: chr14:g.23884984T>G (hg19) chr14:g.23415775T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415775T>G , CM000676.2:g.23415775T>G GRCh38
NC_000014.8:g.23884984T>G , CM000676.1:g.23884984T>G GRCh37
NC_000014.7:g.22954824T>G NCBI36
NG_007884.1:g.24887A>C , LRG_384:g.24887A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5011A>C (MYH7) MANE Select ENSP00000347507.3:p.Ile1671Leu
ENST00000355349.3:c.5011A>C (MYH7) ENSP00000347507.3:p.Ile1671Leu
NM_000257.3:c.5011A>C (MYH7) NP_000248.2:p.Ile1671Leu
NR_126491.1:n.207T>G (MHRT)
XM_017021340.1:c.5011A>C (MYH7) XP_016876829.1:p.Ile1671Leu
NM_000257.4:c.5011A>C (MYH7) MANE Select NP_000248.2:p.Ile1671Leu
Search 100 bp 5'
Search 100 bp 3'