Canonical Allele Identifier: CA393201878

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1176995
• ClinVar RCV Id: RCV001532758
• dbSNP Id: rs2140681546
• MyVariant Identifiers: chr15:g.67073490C>T (hg19) ; chr15:g.66781152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781152C>T , CM000677.2:g.66781152C>T	GRCh38
NC_000015.9:g.67073490C>T , CM000677.1:g.67073490C>T	GRCh37
NC_000015.8:g.64860544C>T	NCBI36
NG_012244.1:g.83817C>T
NG_012244.2:g.83817C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1108C>T MANE Select	ENSP00000288840.5:p.Gln370Ter
ENST00000288840.9:c.1108C>T	ENSP00000288840.5:p.Gln370Ter
ENST00000557916.5:c.1240C>T	ENSP00000452955.1:n.1240C>T
ENST00000559931.5:c.412C>T	ENSP00000453446.1:n.412C>T
NM_005585.4:c.1108C>T	NP_005576.3:p.Gln370Ter
NR_027654.1:n.2163C>T
XM_011521561.1:c.325C>T	XP_011519863.1:p.Gln109Ter
XR_931825.1:n.2507C>T
XM_011521561.2:c.325C>T	XP_011519863.1:p.Gln109Ter
NM_005585.5:c.1108C>T MANE Select	NP_005576.3:p.Gln370Ter
NR_027654.2:n.2263C>T