Canonical Allele Identifier: CA10643997
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 312906
ClinVar RCV Id: RCV000299716 RCV000305464 RCV000391654 RCV000391670 RCV003320166 RCV003995841
dbSNP Id: rs886050421
MyVariant Identifiers: chr14:g.23892919G>C (hg19) chr14:g.23423710G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423710G>C , CM000676.2:g.23423710G>C GRCh38
NC_000014.8:g.23892919G>C , CM000676.1:g.23892919G>C GRCh37
NC_000014.7:g.22962759G>C NCBI36
NG_007884.1:g.16952C>G , LRG_384:g.16952C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2936C>G MANE Select ENSP00000347507.3:p.Thr979Arg
ENST00000355349.3:c.2936C>G ENSP00000347507.3:p.Thr979Arg
NM_000257.3:c.2936C>G NP_000248.2:p.Thr979Arg
XR_245686.3:n.3042C>G
XM_017021340.1:c.2936C>G XP_016876829.1:p.Thr979Arg
NM_000257.4:c.2936C>G MANE Select NP_000248.2:p.Thr979Arg
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