Canonical Allele Identifier: CA4387165
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs773511386
ExAC: 7:100245019 T / C
gnomAD v2: 7-100245019-T-C
gnomAD v4: 7-100647396-T-C
MyVariant Identifiers: chr7:g.100245019T>C (hg19) chr7:g.100647396T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647396T>C , CM000669.2:g.100647396T>C GRCh38
NC_000007.13:g.100245019T>C , CM000669.1:g.100245019T>C GRCh37
NC_000007.12:g.100082955T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.759+48A>G MANE Select ENSP00000160382.5:n.759+48A>G
ENST00000160382.9:c.759+48A>G ENSP00000160382.5:n.759+48A>G
ENST00000487125.1:n.295+48A>G
NM_016188.4:c.759+48A>G NP_057272.1:n.759+48A>G
XR_927476.1:n.866+48A>G
NR_134539.1:n.866+48A>G
NM_016188.5:c.759+48A>G MANE Select NP_057272.1:n.759+48A>G
NR_134539.2:n.853+48A>G
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