Canonical Allele Identifier: CA229102
Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 100839
ClinVar RCV Id: RCV000087201
dbSNP Id: rs483352719
gnomAD v4: 14-23386055-C-A
MyVariant Identifiers: chr14:g.23855264C>A (hg19) chr14:g.23386055C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23386055C>A , CM000676.2:g.23386055C>A GRCh38
NC_000014.8:g.23855264C>A , CM000676.1:g.23855264C>A GRCh37
NC_000014.7:g.22925104C>A NCBI36
NG_023444.1:g.27223G>T , LRG_389:g.27223G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000405093.9:c.5036G>T MANE Select ENSP00000386041.3:p.Arg1679Leu
ENST00000356287.3:c.5036G>T ENSP00000348634.3:p.Arg1679Leu
ENST00000405093.7:c.5036G>T ENSP00000386041.3:p.Arg1679Leu
NM_002471.3:c.5036G>T , LRG_389t1:c.5036G>T NP_002462.2:p.Arg1679Leu
NM_002471.4:c.5036G>T MANE Select NP_002462.2:p.Arg1679Leu
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