Canonical Allele Identifier: CA393201639

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1174583
• ClinVar RCV Id: RCV001799805
• dbSNP Id: rs1245654025
• gnomAD v4: 15-66781039-G-T
• MyVariant Identifiers: chr15:g.67073377G>T (hg19) ; chr15:g.66781039G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781039G>T , CM000677.2:g.66781039G>T	GRCh38
NC_000015.9:g.67073377G>T , CM000677.1:g.67073377G>T	GRCh37
NC_000015.8:g.64860431G>T	NCBI36
NG_012244.1:g.83704G>T
NG_012244.2:g.83704G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.995G>T MANE Select	ENSP00000288840.5:p.Cys332Phe
ENST00000288840.9:c.995G>T	ENSP00000288840.5:p.Cys332Phe
ENST00000557916.5:c.1127G>T	ENSP00000452955.1:n.1127G>T
ENST00000559931.5:c.299G>T	ENSP00000453446.1:n.299G>T
NM_005585.4:c.995G>T	NP_005576.3:p.Cys332Phe
NR_027654.1:n.2050G>T
XM_011521561.1:c.212G>T	XP_011519863.1:p.Cys71Phe
XR_931825.1:n.2394G>T
XM_011521561.2:c.212G>T	XP_011519863.1:p.Cys71Phe
NM_005585.5:c.995G>T MANE Select	NP_005576.3:p.Cys332Phe
NR_027654.2:n.2150G>T