Canonical Allele Identifier: CA7626708

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1744530
• ClinVar RCV Id: RCV002342902 ; RCV003102668
• dbSNP Id: rs142278375
• ExAC: 15:67073398 A / T
• gnomAD v2: 15-67073398-A-T
• gnomAD v3: 15-66781060-A-T
• gnomAD v4: 15-66781060-A-T
• MyVariant Identifiers: chr15:g.67073398A>T (hg19) ; chr15:g.66781060A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781060A>T , CM000677.2:g.66781060A>T	GRCh38
NC_000015.9:g.67073398A>T , CM000677.1:g.67073398A>T	GRCh37
NC_000015.8:g.64860452A>T	NCBI36
NG_012244.1:g.83725A>T
NG_012244.2:g.83725A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1016A>T MANE Select	ENSP00000288840.5:p.His339Leu
ENST00000288840.9:c.1016A>T	ENSP00000288840.5:p.His339Leu
ENST00000557916.5:c.1148A>T	ENSP00000452955.1:n.1148A>T
ENST00000559931.5:c.320A>T	ENSP00000453446.1:n.320A>T
NM_005585.4:c.1016A>T	NP_005576.3:p.His339Leu
NR_027654.1:n.2071A>T
XM_011521561.1:c.233A>T	XP_011519863.1:p.His78Leu
XR_931825.1:n.2415A>T
XM_011521561.2:c.233A>T	XP_011519863.1:p.His78Leu
NM_005585.5:c.1016A>T MANE Select	NP_005576.3:p.His339Leu
NR_027654.2:n.2171A>T