Canonical Allele Identifier: CA049269
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs779845147
ExAC: 14:23900248 T / C
gnomAD v2: 14-23900248-T-C
gnomAD v3: 14-23431039-T-C
gnomAD v4: 14-23431039-T-C
MyVariant Identifiers: chr14:g.23900248T>C (hg19) chr14:g.23431039T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431039T>C , CM000676.2:g.23431039T>C GRCh38
NC_000014.8:g.23900248T>C , CM000676.1:g.23900248T>C GRCh37
NC_000014.7:g.22970088T>C NCBI36
NG_007884.1:g.9623A>G , LRG_384:g.9623A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.797-40A>G MANE Select ENSP00000347507.3:n.797-40A>G
ENST00000355349.3:c.797-40A>G ENSP00000347507.3:n.797-40A>G
NM_000257.3:c.797-40A>G NP_000248.2:n.797-40A>G
XR_245686.3:n.903-40A>G
XM_017021340.1:c.797-40A>G XP_016876829.1:n.797-40A>G
NM_000257.4:c.797-40A>G MANE Select NP_000248.2:n.797-40A>G
Search 100 bp 5'
Search 100 bp 3'