Canonical Allele Identifier: CA485626224
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3071915
ClinVar RCV Id: RCV004011945
dbSNP Id: rs1892911789
MyVariant Identifiers: chr14:g.23900201C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23430992C>T , CM000676.2:g.23430992C>T GRCh38
NC_000014.8:g.23900201C>T , CM000676.1:g.23900201C>T GRCh37
NC_000014.7:g.22970041C>T NCBI36
NG_007884.1:g.9670G>A , LRG_384:g.9670G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.804G>A MANE Select ENSP00000347507.3:p.Leu268=
ENST00000355349.3:c.804G>A ENSP00000347507.3:p.Leu268=
NM_000257.3:c.804G>A NP_000248.2:p.Leu268=
XR_245686.3:n.910G>A
XM_017021340.1:c.804G>A XP_016876829.1:p.Leu268=
NM_000257.4:c.804G>A MANE Select NP_000248.2:p.Leu268=
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