Canonical Allele Identifier: CA037306
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs762361166
ExAC: 14:23889343 A / C
gnomAD v2: 14-23889343-A-C
MyVariant Identifiers: chr14:g.23889343A>C (hg19) chr14:g.23420134A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420134A>C , CM000676.2:g.23420134A>C GRCh38
NC_000014.8:g.23889343A>C , CM000676.1:g.23889343A>C GRCh37
NC_000014.7:g.22959183A>C NCBI36
NG_007884.1:g.20528T>G , LRG_384:g.20528T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3437T>G MANE Select ENSP00000347507.3:p.Ile1146Ser
ENST00000355349.3:c.3437T>G ENSP00000347507.3:p.Ile1146Ser
NM_000257.3:c.3437T>G NP_000248.2:p.Ile1146Ser
XM_017021340.1:c.3437T>G XP_016876829.1:p.Ile1146Ser
NM_000257.4:c.3437T>G MANE Select NP_000248.2:p.Ile1146Ser
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