Canonical Allele Identifier: CA456752891
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs1196020970
gnomAD v2: 7-100244234-G-A
gnomAD v4: 7-100646611-G-A
MyVariant Identifiers: chr7:g.100244234G>A (hg19) chr7:g.100646611G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646611G>A , CM000669.2:g.100646611G>A GRCh38
NC_000007.13:g.100244234G>A , CM000669.1:g.100244234G>A GRCh37
NC_000007.12:g.100082170G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1053C>T MANE Select ENSP00000160382.5:p.Asn351=
ENST00000160382.9:c.1053C>T ENSP00000160382.5:p.Asn351=
ENST00000487125.1:n.615C>T
NM_016188.4:c.1053C>T NP_057272.1:p.Asn351=
XR_927476.1:n.1160C>T
NR_134539.1:n.1160C>T
NM_016188.5:c.1053C>T MANE Select NP_057272.1:p.Asn351=
NR_134539.2:n.1147C>T
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