Canonical Allele Identifier: CA047910
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 510983
ClinVar RCV Id: RCV000606583 RCV001186257 RCV001426462 RCV001811100 RCV002476357
dbSNP Id: rs781212482
ExAC: 14:23883111 G / A
gnomAD v2: 14-23883111-G-A
gnomAD v3: 14-23413902-G-A
gnomAD v4: 14-23413902-G-A
MyVariant Identifiers: chr14:g.23883111G>A (hg19) chr14:g.23413902G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413902G>A , CM000676.2:g.23413902G>A GRCh38
NC_000014.8:g.23883111G>A , CM000676.1:g.23883111G>A GRCh37
NC_000014.7:g.22952951G>A NCBI36
NG_007884.1:g.26760C>T , LRG_384:g.26760C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5656-9C>T MANE Select ENSP00000347507.3:n.5656-9C>T
ENST00000355349.3:c.5656-9C>T ENSP00000347507.3:n.5656-9C>T
NM_000257.3:c.5656-9C>T NP_000248.2:n.5656-9C>T
XM_017021340.1:c.5656-9C>T XP_016876829.1:n.5656-9C>T
NM_000257.4:c.5656-9C>T MANE Select NP_000248.2:n.5656-9C>T
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