Canonical Allele Identifier: CA011730
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42882
ClinVar RCV Id: RCV000035765 RCV000158509
dbSNP Id: rs397516134
MyVariant Identifiers: chr14:g.23895212C>G (hg19) chr14:g.23426003C>G (hg38)
PubMed: PMID:25031304 PMID:27247418 PMID:27532257
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23426003C>G , CM000676.2:g.23426003C>G GRCh38
NC_000014.8:g.23895212C>G , CM000676.1:g.23895212C>G GRCh37
NC_000014.7:g.22965052C>G NCBI36
NG_007884.1:g.14659G>C , LRG_384:g.14659G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2123G>C MANE Select ENSP00000347507.3:p.Gly708Ala
ENST00000355349.3:c.2123G>C ENSP00000347507.3:p.Gly708Ala
NM_000257.3:c.2123G>C NP_000248.2:p.Gly708Ala
XR_245686.3:n.2229G>C
XM_017021340.1:c.2123G>C XP_016876829.1:p.Gly708Ala
NM_000257.4:c.2123G>C MANE Select NP_000248.2:p.Gly708Ala
Search 100 bp 5'
Search 100 bp 3'