Canonical Allele Identifier: CA389011470
Gene: MYH6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23862719G>C (hg19) chr14:g.23393510G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23393510G>C , CM000676.2:g.23393510G>C GRCh38
NC_000014.8:g.23862719G>C , CM000676.1:g.23862719G>C GRCh37
NC_000014.7:g.22932559G>C NCBI36
NG_023444.1:g.19768C>G , LRG_389:g.19768C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2937C>G MANE Select ENSP00000386041.3:p.Asn979Lys
ENST00000356287.3:c.2937C>G ENSP00000348634.3:p.Asn979Lys
ENST00000405093.7:c.2937C>G ENSP00000386041.3:p.Asn979Lys
NM_002471.3:c.2937C>G , LRG_389t1:c.2937C>G NP_002462.2:p.Asn979Lys
NM_002471.4:c.2937C>G MANE Select NP_002462.2:p.Asn979Lys
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