Canonical Allele Identifier: CA7626720

Gene: SMAD6

Linked Data

• dbSNP Id: rs769728796
• ExAC: 15:67073453 C / A
• gnomAD v2: 15-67073453-C-A
• gnomAD v4: 15-66781115-C-A
• MyVariant Identifiers: chr15:g.67073453C>A (hg19) ; chr15:g.66781115C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781115C>A , CM000677.2:g.66781115C>A	GRCh38
NC_000015.9:g.67073453C>A , CM000677.1:g.67073453C>A	GRCh37
NC_000015.8:g.64860507C>A	NCBI36
NG_012244.1:g.83780C>A
NG_012244.2:g.83780C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1071C>A MANE Select	ENSP00000288840.5:p.Phe357Leu
ENST00000288840.9:c.1071C>A	ENSP00000288840.5:p.Phe357Leu
ENST00000557916.5:c.1203C>A	ENSP00000452955.1:n.1203C>A
ENST00000559931.5:c.375C>A	ENSP00000453446.1:n.375C>A
NM_005585.4:c.1071C>A	NP_005576.3:p.Phe357Leu
NR_027654.1:n.2126C>A
XM_011521561.1:c.288C>A	XP_011519863.1:p.Phe96Leu
XR_931825.1:n.2470C>A
XM_011521561.2:c.288C>A	XP_011519863.1:p.Phe96Leu
NM_005585.5:c.1071C>A MANE Select	NP_005576.3:p.Phe357Leu
NR_027654.2:n.2226C>A