Canonical Allele Identifier: CA7626714

Gene: SMAD6

Linked Data

• dbSNP Id: rs758379176
• ExAC: 15:67073420 C / G
• gnomAD v2: 15-67073420-C-G
• gnomAD v4: 15-66781082-C-G
• MyVariant Identifiers: chr15:g.67073420C>G (hg19) ; chr15:g.66781082C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781082C>G , CM000677.2:g.66781082C>G	GRCh38
NC_000015.9:g.67073420C>G , CM000677.1:g.67073420C>G	GRCh37
NC_000015.8:g.64860474C>G	NCBI36
NG_012244.1:g.83747C>G
NG_012244.2:g.83747C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1038C>G MANE Select	ENSP00000288840.5:p.Leu346=
ENST00000288840.9:c.1038C>G	ENSP00000288840.5:p.Leu346=
ENST00000557916.5:c.1170C>G	ENSP00000452955.1:n.1170C>G
ENST00000559931.5:c.342C>G	ENSP00000453446.1:n.342C>G
NM_005585.4:c.1038C>G	NP_005576.3:p.Leu346=
NR_027654.1:n.2093C>G
XM_011521561.1:c.255C>G	XP_011519863.1:p.Leu85=
XR_931825.1:n.2437C>G
XM_011521561.2:c.255C>G	XP_011519863.1:p.Leu85=
NM_005585.5:c.1038C>G MANE Select	NP_005576.3:p.Leu346=
NR_027654.2:n.2193C>G