Canonical Allele Identifier: CA393201867

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 471744
• ClinVar RCV Id: RCV001374051 ; RCV002456199
• dbSNP Id: rs1555440081
• gnomAD v4: 15-66781146-C-G
• MyVariant Identifiers: chr15:g.67073484C>G (hg19) ; chr15:g.66781146C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781146C>G , CM000677.2:g.66781146C>G	GRCh38
NC_000015.9:g.67073484C>G , CM000677.1:g.67073484C>G	GRCh37
NC_000015.8:g.64860538C>G	NCBI36
NG_012244.1:g.83811C>G
NG_012244.2:g.83811C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000288840.10:c.1102C>G MANE Select	ENSP00000288840.5:p.Leu368Val
ENST00000288840.9:c.1102C>G	ENSP00000288840.5:p.Leu368Val
ENST00000557916.5:c.1234C>G	ENSP00000452955.1:n.1234C>G
ENST00000559931.5:c.406C>G	ENSP00000453446.1:n.406C>G
NM_005585.4:c.1102C>G	NP_005576.3:p.Leu368Val
NR_027654.1:n.2157C>G
XM_011521561.1:c.319C>G	XP_011519863.1:p.Leu107Val
XR_931825.1:n.2501C>G
XM_011521561.2:c.319C>G	XP_011519863.1:p.Leu107Val
NM_005585.5:c.1102C>G MANE Select	NP_005576.3:p.Leu368Val
NR_027654.2:n.2257C>G