Canonical Allele Identifier: CA613317728
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1193202378
gnomAD v2: 14-23893938-G-C
gnomAD v3: 14-23424729-G-C
gnomAD v4: 14-23424729-G-C
MyVariant Identifiers: chr14:g.23893938G>C (hg19) chr14:g.23424729G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424729G>C , CM000676.2:g.23424729G>C GRCh38
NC_000014.8:g.23893938G>C , CM000676.1:g.23893938G>C GRCh37
NC_000014.7:g.22963778G>C NCBI36
NG_007884.1:g.15933C>G , LRG_384:g.15933C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2679+40C>G MANE Select ENSP00000347507.3:n.2679+40C>G
ENST00000355349.3:c.2679+40C>G ENSP00000347507.3:n.2679+40C>G
NM_000257.3:c.2679+40C>G NP_000248.2:n.2679+40C>G
XR_245686.3:n.2785+40C>G
XM_017021340.1:c.2679+40C>G XP_016876829.1:n.2679+40C>G
NM_000257.4:c.2679+40C>G MANE Select NP_000248.2:n.2679+40C>G
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