Canonical Allele Identifier: CA040963
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 381321
ClinVar RCV Id: RCV000437505 RCV001805045 RCV002064978
dbSNP Id: rs370438666
ExAC: 14:23886910 G / T
gnomAD v2: 14-23886910-G-T
gnomAD v3: 14-23417701-G-T
gnomAD v4: 14-23417701-G-T
MyVariant Identifiers: chr14:g.23886910G>T (hg19) chr14:g.23417701G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417701G>T , CM000676.2:g.23417701G>T GRCh38
NC_000014.8:g.23886910G>T , CM000676.1:g.23886910G>T GRCh37
NC_000014.7:g.22956750G>T NCBI36
NG_007884.1:g.22961C>A , LRG_384:g.22961C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4170-15C>A MANE Select ENSP00000347507.3:n.4170-15C>A
ENST00000355349.3:c.4170-15C>A ENSP00000347507.3:n.4170-15C>A
NM_000257.3:c.4170-15C>A NP_000248.2:n.4170-15C>A
XM_017021340.1:c.4170-15C>A XP_016876829.1:n.4170-15C>A
NM_000257.4:c.4170-15C>A MANE Select NP_000248.2:n.4170-15C>A
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