Canonical Allele Identifier: CA485621989
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1595080083
MyVariant Identifiers: chr14:g.23891514T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422305T>C , CM000676.2:g.23422305T>C GRCh38
NC_000014.8:g.23891514T>C , CM000676.1:g.23891514T>C GRCh37
NC_000014.7:g.22961354T>C NCBI36
NG_007884.1:g.18357A>G , LRG_384:g.18357A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3120A>G MANE Select ENSP00000347507.3:p.Gln1040=
ENST00000355349.3:c.3120A>G ENSP00000347507.3:p.Gln1040=
NM_000257.3:c.3120A>G NP_000248.2:p.Gln1040=
XR_245686.3:n.3226A>G
XM_017021340.1:c.3120A>G XP_016876829.1:p.Gln1040=
NM_000257.4:c.3120A>G MANE Select NP_000248.2:p.Gln1040=
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