Canonical Allele Identifier: CA257817945
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 920877
ClinVar RCV Id: RCV001179928
dbSNP Id: rs991485633
gnomAD v2: 14-23891509-T-C
gnomAD v3: 14-23422300-T-C
gnomAD v4: 14-23422300-T-C
MyVariant Identifiers: chr14:g.23891509T>C (hg19) chr14:g.23422300T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422300T>C , CM000676.2:g.23422300T>C GRCh38
NC_000014.8:g.23891509T>C , CM000676.1:g.23891509T>C GRCh37
NC_000014.7:g.22961349T>C NCBI36
NG_007884.1:g.18362A>G , LRG_384:g.18362A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.3125A>G MANE Select ENSP00000347507.3:p.Lys1042Arg
ENST00000355349.3:c.3125A>G ENSP00000347507.3:p.Lys1042Arg
NM_000257.3:c.3125A>G NP_000248.2:p.Lys1042Arg
XR_245686.3:n.3231A>G
XM_017021340.1:c.3125A>G XP_016876829.1:p.Lys1042Arg
NM_000257.4:c.3125A>G MANE Select NP_000248.2:p.Lys1042Arg
Search 100 bp 5'
Search 100 bp 3'