Canonical Allele Identifier: CA163406
Gene: MYH6 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.23397187T>C
GRCh37 chr14:g.23866396T>C
Revel Score:
ENST00000405093 (MANE Select) 0.917
ENST00000356287 0.917
gnomAD v2:
14:23866396 T / C
gnomAD v4:
chr14-23397187-T-C
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV000128628
RCV004532537
ClinVar Variation:
139663
dbSNP:
515726230
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23397187T>C , CM000676.2:g.23397187T>C GRCh38
NC_000014.8:g.23866396T>C , CM000676.1:g.23866396T>C GRCh37
NC_000014.7:g.22936236T>C NCBI36
NG_023444.1:g.16091A>G , LRG_389:g.16091A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2033A>G MANE Select ENSP00000386041.3:p.Asn678Ser
ENST00000356287.3:c.2033A>G ENSP00000348634.3:p.Asn678Ser
ENST00000405093.7:c.2033A>G ENSP00000386041.3:p.Asn678Ser
NM_002471.3:c.2033A>G , LRG_389t1:c.2033A>G NP_002462.2:p.Asn678Ser
NM_002471.4:c.2033A>G MANE Select NP_002462.2:p.Asn678Ser
Search 100 bp 5'
Search 100 bp 3'