Canonical Allele Identifier: CA613317825
Gene: MYH6 HGNC NCBI

Linked Data

gnomAD v2: 14-23865818-T-C
MyVariant Identifiers: chr14:g.23865818T>C (hg19) chr14:g.23396609T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23396609T>C , CM000676.2:g.23396609T>C GRCh38
NC_000014.8:g.23865818T>C , CM000676.1:g.23865818T>C GRCh37
NC_000014.7:g.22935658T>C NCBI36
NG_023444.1:g.16669A>G , LRG_389:g.16669A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2292+85A>G MANE Select ENSP00000386041.3:n.2292+85A>G
ENST00000356287.3:c.2292+85A>G ENSP00000348634.3:n.2292+85A>G
ENST00000405093.7:c.2292+85A>G ENSP00000386041.3:n.2292+85A>G
NM_002471.3:c.2292+85A>G , LRG_389t1:c.2292+85A>G NP_002462.2:n.2292+85A>G
NM_002471.4:c.2292+85A>G MANE Select NP_002462.2:n.2292+85A>G
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