Canonical Allele Identifier: CA485767369
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1115785
ClinVar RCV Id: RCV001443903
dbSNP Id: rs1371181685
gnomAD v2: 14-23900881-G-A
gnomAD v3: 14-23431672-G-A
gnomAD v4: 14-23431672-G-A
MyVariant Identifiers: chr14:g.23900881G>A (hg19) chr14:g.23431672G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431672G>A , CM000676.2:g.23431672G>A GRCh38
NC_000014.8:g.23900881G>A , CM000676.1:g.23900881G>A GRCh37
NC_000014.7:g.22970721G>A NCBI36
NG_007884.1:g.8990C>T , LRG_384:g.8990C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.645C>T MANE Select ENSP00000347507.3:p.Thr215=
ENST00000355349.3:c.645C>T ENSP00000347507.3:p.Thr215=
NM_000257.3:c.645C>T NP_000248.2:p.Thr215=
XR_245686.3:n.751C>T
XM_017021340.1:c.645C>T XP_016876829.1:p.Thr215=
NM_000257.4:c.645C>T MANE Select NP_000248.2:p.Thr215=
Search 100 bp 5'
Search 100 bp 3'