Canonical Allele Identifier: CA704297636
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1359758942
gnomAD v3: 14-23429184-G-C
gnomAD v4: 14-23429184-G-C
MyVariant Identifiers: chr14:g.23898393G>C (hg19) chr14:g.23429184G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429184G>C , CM000676.2:g.23429184G>C GRCh38
NC_000014.8:g.23898393G>C , CM000676.1:g.23898393G>C GRCh37
NC_000014.7:g.22968233G>C NCBI36
NG_007884.1:g.11478C>G , LRG_384:g.11478C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1257+45C>G MANE Select ENSP00000347507.3:n.1257+45C>G
ENST00000355349.3:c.1257+45C>G ENSP00000347507.3:n.1257+45C>G
NM_000257.3:c.1257+45C>G NP_000248.2:n.1257+45C>G
XR_245686.3:n.1363+45C>G
XM_017021340.1:c.1257+45C>G XP_016876829.1:n.1257+45C>G
NM_000257.4:c.1257+45C>G MANE Select NP_000248.2:n.1257+45C>G
Search 100 bp 5'
Search 100 bp 3'