Canonical Allele Identifier: CA389048913
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2748129
ClinVar RCV Id: RCV003587648
MyVariant Identifiers: chr14:g.23894985G>C (hg19) chr14:g.23425776G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425776G>C , CM000676.2:g.23425776G>C GRCh38
NC_000014.8:g.23894985G>C , CM000676.1:g.23894985G>C GRCh37
NC_000014.7:g.22964825G>C NCBI36
NG_007884.1:g.14886C>G , LRG_384:g.14886C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2205C>G MANE Select ENSP00000347507.3:p.Phe735Leu
ENST00000355349.3:c.2205C>G ENSP00000347507.3:p.Phe735Leu
NM_000257.3:c.2205C>G NP_000248.2:p.Phe735Leu
XR_245686.3:n.2311C>G
XM_017021340.1:c.2205C>G XP_016876829.1:p.Phe735Leu
NM_000257.4:c.2205C>G MANE Select NP_000248.2:p.Phe735Leu
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