Canonical Allele Identifier: CA4387104
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs766210119
ExAC: 7:100244562 C / G
gnomAD v2: 7-100244562-C-G
gnomAD v3: 7-100646939-C-G
gnomAD v4: 7-100646939-C-G
MyVariant Identifiers: chr7:g.100244562C>G (hg19) chr7:g.100646939C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646939C>G , CM000669.2:g.100646939C>G GRCh38
NC_000007.13:g.100244562C>G , CM000669.1:g.100244562C>G GRCh37
NC_000007.12:g.100082498C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000160382.10:c.936+32G>C MANE Select ENSP00000160382.5:n.936+32G>C
ENST00000160382.9:c.936+32G>C ENSP00000160382.5:n.936+32G>C
ENST00000487125.1:n.498+32G>C
NM_016188.4:c.936+32G>C NP_057272.1:n.936+32G>C
XR_927476.1:n.1043+32G>C
NR_134539.1:n.1043+32G>C
NM_016188.5:c.936+32G>C MANE Select NP_057272.1:n.936+32G>C
NR_134539.2:n.1030+32G>C
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