Canonical Allele Identifier: CA7626701

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 471766
• ClinVar RCV Id: RCV000552990 ; RCV001755873
• dbSNP Id: rs199531653
• ExAC: 15:67073380 G / C
• gnomAD v2: 15-67073380-G-C
• gnomAD v3: 15-66781042-G-C
• gnomAD v4: 15-66781042-G-C
• MyVariant Identifiers: chr15:g.67073380G>C (hg19) ; chr15:g.66781042G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781042G>C , CM000677.2:g.66781042G>C	GRCh38
NC_000015.9:g.67073380G>C , CM000677.1:g.67073380G>C	GRCh37
NC_000015.8:g.64860434G>C	NCBI36
NG_012244.1:g.83707G>C
NG_012244.2:g.83707G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.998G>C MANE Select	ENSP00000288840.5:p.Ser333Thr
ENST00000288840.9:c.998G>C	ENSP00000288840.5:p.Ser333Thr
ENST00000557916.5:c.1130G>C	ENSP00000452955.1:n.1130G>C
ENST00000559931.5:c.302G>C	ENSP00000453446.1:n.302G>C
NM_005585.4:c.998G>C	NP_005576.3:p.Ser333Thr
NR_027654.1:n.2053G>C
XM_011521561.1:c.215G>C	XP_011519863.1:p.Ser72Thr
XR_931825.1:n.2397G>C
XM_011521561.2:c.215G>C	XP_011519863.1:p.Ser72Thr
NM_005585.5:c.998G>C MANE Select	NP_005576.3:p.Ser333Thr
NR_027654.2:n.2153G>C