Canonical Allele Identifier: CA485626206
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2990167
ClinVar RCV Id: RCV003844862 RCV004006123
dbSNP Id: rs1474253373
gnomAD v2: 14-23900171-T-C
gnomAD v3: 14-23430962-T-C
gnomAD v4: 14-23430962-T-C
MyVariant Identifiers: chr14:g.23900171T>C (hg19) chr14:g.23430962T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23430962T>C , CM000676.2:g.23430962T>C GRCh38
NC_000014.8:g.23900171T>C , CM000676.1:g.23900171T>C GRCh37
NC_000014.7:g.22970011T>C NCBI36
NG_007884.1:g.9700A>G , LRG_384:g.9700A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.834A>G MANE Select ENSP00000347507.3:p.Lys278=
ENST00000355349.3:c.834A>G ENSP00000347507.3:p.Lys278=
NM_000257.3:c.834A>G NP_000248.2:p.Lys278=
XR_245686.3:n.940A>G
XM_017021340.1:c.834A>G XP_016876829.1:p.Lys278=
NM_000257.4:c.834A>G MANE Select NP_000248.2:p.Lys278=
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