Canonical Allele Identifier: CA389045880
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 432796
ClinVar RCV Id: RCV000498027 RCV001183003 RCV001857022
dbSNP Id: rs1308445601
gnomAD v2: 14-23892836-G-C
gnomAD v4: 14-23423627-G-C
MyVariant Identifiers: chr14:g.23892836G>C (hg19) chr14:g.23423627G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423627G>C , CM000676.2:g.23423627G>C GRCh38
NC_000014.8:g.23892836G>C , CM000676.1:g.23892836G>C GRCh37
NC_000014.7:g.22962676G>C NCBI36
NG_007884.1:g.17035C>G , LRG_384:g.17035C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3019C>G MANE Select ENSP00000347507.3:p.Leu1007Val
ENST00000355349.3:c.3019C>G ENSP00000347507.3:p.Leu1007Val
NM_000257.3:c.3019C>G NP_000248.2:p.Leu1007Val
XR_245686.3:n.3125C>G
XM_017021340.1:c.3019C>G XP_016876829.1:p.Leu1007Val
NM_000257.4:c.3019C>G MANE Select NP_000248.2:p.Leu1007Val
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