Canonical Allele Identifier: CA485621379
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1412325472
gnomAD v3: 14-23420187-G-C
gnomAD v4: 14-23420187-G-C
MyVariant Identifiers: chr14:g.23889396G>C (hg19) chr14:g.23420187G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420187G>C , CM000676.2:g.23420187G>C GRCh38
NC_000014.8:g.23889396G>C , CM000676.1:g.23889396G>C GRCh37
NC_000014.7:g.22959236G>C NCBI36
NG_007884.1:g.20475C>G , LRG_384:g.20475C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3384C>G MANE Select ENSP00000347507.3:p.Ala1128=
ENST00000355349.3:c.3384C>G ENSP00000347507.3:p.Ala1128=
NM_000257.3:c.3384C>G NP_000248.2:p.Ala1128=
XR_245686.3:n.3492C>G
XM_017021340.1:c.3384C>G XP_016876829.1:p.Ala1128=
NM_000257.4:c.3384C>G MANE Select NP_000248.2:p.Ala1128=
Search 100 bp 5'
Search 100 bp 3'