Canonical Allele Identifier: CA7115351
Gene: MYH6 HGNC NCBI

Linked Data

dbSNP Id: rs758642293
ExAC: 14:23862834 T / C
gnomAD v2: 14-23862834-T-C
gnomAD v3: 14-23393625-T-C
gnomAD v4: 14-23393625-T-C
MyVariant Identifiers: chr14:g.23862834T>C (hg19) chr14:g.23393625T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23393625T>C , CM000676.2:g.23393625T>C GRCh38
NC_000014.8:g.23862834T>C , CM000676.1:g.23862834T>C GRCh37
NC_000014.7:g.22932674T>C NCBI36
NG_023444.1:g.19653A>G , LRG_389:g.19653A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000405093.9:c.2928+41A>G MANE Select ENSP00000386041.3:n.2928+41A>G
ENST00000356287.3:c.2928+41A>G ENSP00000348634.3:n.2928+41A>G
ENST00000405093.7:c.2928+41A>G ENSP00000386041.3:n.2928+41A>G
NM_002471.3:c.2928+41A>G , LRG_389t1:c.2928+41A>G NP_002462.2:n.2928+41A>G
NM_002471.4:c.2928+41A>G MANE Select NP_002462.2:n.2928+41A>G
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