Canonical Allele Identifier: CA393201713

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1470274
• ClinVar RCV Id: RCV001964097
• dbSNP Id: rs2140681275
• gnomAD v4: 15-66781075-G-T
• MyVariant Identifiers: chr15:g.67073413G>T (hg19) ; chr15:g.66781075G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781075G>T , CM000677.2:g.66781075G>T	GRCh38
NC_000015.9:g.67073413G>T , CM000677.1:g.67073413G>T	GRCh37
NC_000015.8:g.64860467G>T	NCBI36
NG_012244.1:g.83740G>T
NG_012244.2:g.83740G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1031G>T MANE Select	ENSP00000288840.5:p.Gly344Val
ENST00000288840.9:c.1031G>T	ENSP00000288840.5:p.Gly344Val
ENST00000557916.5:c.1163G>T	ENSP00000452955.1:n.1163G>T
ENST00000559931.5:c.335G>T	ENSP00000453446.1:n.335G>T
NM_005585.4:c.1031G>T	NP_005576.3:p.Gly344Val
NR_027654.1:n.2086G>T
XM_011521561.1:c.248G>T	XP_011519863.1:p.Gly83Val
XR_931825.1:n.2430G>T
XM_011521561.2:c.248G>T	XP_011519863.1:p.Gly83Val
NM_005585.5:c.1031G>T MANE Select	NP_005576.3:p.Gly344Val
NR_027654.2:n.2186G>T