Canonical Allele Identifier: CA485625942
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23899084T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429875T>C , CM000676.2:g.23429875T>C GRCh38
NC_000014.8:g.23899084T>C , CM000676.1:g.23899084T>C GRCh37
NC_000014.7:g.22968924T>C NCBI36
NG_007884.1:g.10787A>G , LRG_384:g.10787A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1038A>G MANE Select ENSP00000347507.3:p.Lys346=
ENST00000355349.3:c.1038A>G ENSP00000347507.3:p.Lys346=
NM_000257.3:c.1038A>G NP_000248.2:p.Lys346=
XR_245686.3:n.1144A>G
XM_017021340.1:c.1038A>G XP_016876829.1:p.Lys346=
NM_000257.4:c.1038A>G MANE Select NP_000248.2:p.Lys346=
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