Canonical Allele Identifier: CA389045684
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23892776G>C (hg19) chr14:g.23423567G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423567G>C , CM000676.2:g.23423567G>C GRCh38
NC_000014.8:g.23892776G>C , CM000676.1:g.23892776G>C GRCh37
NC_000014.7:g.22962616G>C NCBI36
NG_007884.1:g.17095C>G , LRG_384:g.17095C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3079C>G MANE Select ENSP00000347507.3:p.Leu1027Val
ENST00000355349.3:c.3079C>G ENSP00000347507.3:p.Leu1027Val
NM_000257.3:c.3079C>G NP_000248.2:p.Leu1027Val
XR_245686.3:n.3185C>G
XM_017021340.1:c.3079C>G XP_016876829.1:p.Leu1027Val
NM_000257.4:c.3079C>G MANE Select NP_000248.2:p.Leu1027Val
Search 100 bp 5'
Search 100 bp 3'