Canonical Allele Identifier: CA7115349
Gene: MYH6 HGNC NCBI

Linked Data

dbSNP Id: rs765295261
ExAC: 14:23862832 T / G
gnomAD v2: 14-23862832-T-G
gnomAD v4: 14-23393623-T-G
MyVariant Identifiers: chr14:g.23862832T>G (hg19) chr14:g.23393623T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23393623T>G , CM000676.2:g.23393623T>G GRCh38
NC_000014.8:g.23862832T>G , CM000676.1:g.23862832T>G GRCh37
NC_000014.7:g.22932672T>G NCBI36
NG_023444.1:g.19655A>C , LRG_389:g.19655A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000405093.9:c.2928+43A>C MANE Select ENSP00000386041.3:n.2928+43A>C
ENST00000356287.3:c.2928+43A>C ENSP00000348634.3:n.2928+43A>C
ENST00000405093.7:c.2928+43A>C ENSP00000386041.3:n.2928+43A>C
NM_002471.3:c.2928+43A>C , LRG_389t1:c.2928+43A>C NP_002462.2:n.2928+43A>C
NM_002471.4:c.2928+43A>C MANE Select NP_002462.2:n.2928+43A>C
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