Canonical Allele Identifier: CA4387168
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs774557186
ExAC: 7:100245032 A / G
gnomAD v2: 7-100245032-A-G
gnomAD v4: 7-100647409-A-G
MyVariant Identifiers: chr7:g.100245032A>G (hg19) chr7:g.100647409A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647409A>G , CM000669.2:g.100647409A>G GRCh38
NC_000007.13:g.100245032A>G , CM000669.1:g.100245032A>G GRCh37
NC_000007.12:g.100082968A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.759+35T>C MANE Select ENSP00000160382.5:n.759+35T>C
ENST00000160382.9:c.759+35T>C ENSP00000160382.5:n.759+35T>C
ENST00000487125.1:n.295+35T>C
NM_016188.4:c.759+35T>C NP_057272.1:n.759+35T>C
XR_927476.1:n.866+35T>C
NR_134539.1:n.866+35T>C
NM_016188.5:c.759+35T>C MANE Select NP_057272.1:n.759+35T>C
NR_134539.2:n.853+35T>C
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