Canonical Allele Identifier: CA613318043
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1305354368
gnomAD v2: 14-23888667-C-G
gnomAD v4: 14-23419458-C-G
MyVariant Identifiers: chr14:g.23888667C>G (hg19) chr14:g.23419458C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419458C>G , CM000676.2:g.23419458C>G GRCh38
NC_000014.8:g.23888667C>G , CM000676.1:g.23888667C>G GRCh37
NC_000014.7:g.22958507C>G NCBI36
NG_007884.1:g.21204G>C , LRG_384:g.21204G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3853+25G>C MANE Select ENSP00000347507.3:n.3853+25G>C
ENST00000355349.3:c.3853+25G>C ENSP00000347507.3:n.3853+25G>C
NM_000257.3:c.3853+25G>C NP_000248.2:n.3853+25G>C
XM_017021340.1:c.3853+25G>C XP_016876829.1:n.3853+25G>C
NM_000257.4:c.3853+25G>C MANE Select NP_000248.2:n.3853+25G>C
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