Canonical Allele Identifier: CA704269875
Gene: MYH6 HGNC NCBI

Linked Data

dbSNP Id: rs1449843039
gnomAD v3: 14-23392871-G-C
gnomAD v4: 14-23392871-G-C
MyVariant Identifiers: chr14:g.23862080G>C (hg19) chr14:g.23392871G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23392871G>C , CM000676.2:g.23392871G>C GRCh38
NC_000014.8:g.23862080G>C , CM000676.1:g.23862080G>C GRCh37
NC_000014.7:g.22931920G>C NCBI36
NG_023444.1:g.20407C>G , LRG_389:g.20407C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000405093.9:c.3251+41C>G MANE Select ENSP00000386041.3:n.3251+41C>G
ENST00000356287.3:c.3251+41C>G ENSP00000348634.3:n.3251+41C>G
ENST00000405093.7:c.3251+41C>G ENSP00000386041.3:n.3251+41C>G
NM_002471.3:c.3251+41C>G , LRG_389t1:c.3251+41C>G NP_002462.2:n.3251+41C>G
NM_002471.4:c.3251+41C>G MANE Select NP_002462.2:n.3251+41C>G
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