Canonical Allele Identifier: CA420607069

Gene: GJA8

Linked Data

• dbSNP Id: rs782367791
• gnomAD v2: 1-147380523-G-C
• MyVariant Identifiers: chr1:g.147380523G>C (hg19) ; chr1:g.147908396G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908396G>C , CM000663.2:g.147908396G>C	GRCh38
NC_000001.10:g.147380523G>C , CM000663.1:g.147380523G>C	GRCh37
NC_000001.9:g.145847147G>C	NCBI36
NG_016242.1:g.10578G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.441G>C MANE Select	ENSP00000358238.1:p.Leu147=
ENST00000369235.1:c.441G>C	ENSP00000358238.1:p.Leu147=
NM_005267.4:c.441G>C	NP_005258.2:p.Leu147=
XM_011509416.1:c.441G>C	XP_011507718.1:p.Leu147=
XM_011509417.1:c.441G>C	XP_011507719.1:p.Leu147=
XM_011509417.2:c.441G>C	XP_011507719.1:p.Leu147=
XR_002956281.1:n.1356G>C
NM_005267.5:c.441G>C MANE Select	NP_005258.2:p.Leu147=