Canonical Allele Identifier: CA389053866
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2133336
ClinVar RCV Id: RCV003040883
MyVariant Identifiers: chr14:g.23902829A>G (hg19) chr14:g.23433620A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433620A>G , CM000676.2:g.23433620A>G GRCh38
NC_000014.8:g.23902829A>G , CM000676.1:g.23902829A>G GRCh37
NC_000014.7:g.22972669A>G NCBI36
NG_007884.1:g.7042T>C , LRG_384:g.7042T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.113T>C MANE Select ENSP00000347507.3:p.Phe38Ser
ENST00000355349.3:c.113T>C ENSP00000347507.3:p.Phe38Ser
NM_000257.3:c.113T>C NP_000248.2:p.Phe38Ser
XR_245686.3:n.219T>C
XM_017021340.1:c.113T>C XP_016876829.1:p.Phe38Ser
NM_000257.4:c.113T>C MANE Select NP_000248.2:p.Phe38Ser
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