Canonical Allele Identifier: CA389052250
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1477833
ClinVar RCV Id: RCV001971787
dbSNP Id: rs1892945237
gnomAD v3: 14-23431627-A-C
gnomAD v4: 14-23431627-A-C
MyVariant Identifiers: chr14:g.23900836A>C (hg19) chr14:g.23431627A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431627A>C , CM000676.2:g.23431627A>C GRCh38
NC_000014.8:g.23900836A>C , CM000676.1:g.23900836A>C GRCh37
NC_000014.7:g.22970676A>C NCBI36
NG_007884.1:g.9035T>G , LRG_384:g.9035T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.690T>G MANE Select ENSP00000347507.3:p.Phe230Leu
ENST00000355349.3:c.690T>G ENSP00000347507.3:p.Phe230Leu
NM_000257.3:c.690T>G NP_000248.2:p.Phe230Leu
XR_245686.3:n.796T>G
XM_017021340.1:c.690T>G XP_016876829.1:p.Phe230Leu
NM_000257.4:c.690T>G MANE Select NP_000248.2:p.Phe230Leu
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