Canonical Allele Identifier: CA704269153
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1178633915
gnomAD v4: 14-23431307-C-G
MyVariant Identifiers: chr14:g.23900516C>G (hg19) chr14:g.23431307C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431307C>G , CM000676.2:g.23431307C>G GRCh38
NC_000014.8:g.23900516C>G , CM000676.1:g.23900516C>G GRCh37
NC_000014.7:g.22970356C>G NCBI36
NG_007884.1:g.9355G>C , LRG_384:g.9355G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.796+111G>C MANE Select ENSP00000347507.3:n.796+111G>C
ENST00000355349.3:c.796+111G>C ENSP00000347507.3:n.796+111G>C
NM_000257.3:c.796+111G>C NP_000248.2:n.796+111G>C
XR_245686.3:n.902+111G>C
XM_017021340.1:c.796+111G>C XP_016876829.1:n.796+111G>C
NM_000257.4:c.796+111G>C MANE Select NP_000248.2:n.796+111G>C
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