Canonical Allele Identifier: CA134485
Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 44540
ClinVar RCV Id: RCV000037536
dbSNP Id: rs397516778
MyVariant Identifiers: chr14:g.23851733C>G (hg19) chr14:g.23382524C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23382524C>G , CM000676.2:g.23382524C>G GRCh38
NC_000014.8:g.23851733C>G , CM000676.1:g.23851733C>G GRCh37
NC_000014.7:g.22921573C>G NCBI36
NG_023444.1:g.30754G>C , LRG_389:g.30754G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000405093.9:c.5700G>C MANE Select ENSP00000386041.3:p.Lys1900Asn
ENST00000651452.1:n.927G>C
ENST00000356287.3:c.5700G>C ENSP00000348634.3:p.Lys1900Asn
ENST00000405093.7:c.5700G>C ENSP00000386041.3:p.Lys1900Asn
NM_002471.3:c.5700G>C , LRG_389t1:c.5700G>C NP_002462.2:p.Lys1900Asn
NM_002471.4:c.5700G>C MANE Select NP_002462.2:p.Lys1900Asn
Search 100 bp 5'
Search 100 bp 3'