Canonical Allele Identifier: CA394875748

Gene: ABCC6

Linked Data

• dbSNP Id: rs1326218777
• gnomAD v2: 16-16248815-G-C
• gnomAD v3: 16-16154958-G-C
• gnomAD v4: 16-16154958-G-C
• MyVariant Identifiers: chr16:g.16248815G>C (hg19) ; chr16:g.16154958G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154958G>C , CM000678.2:g.16154958G>C	GRCh38
NC_000016.9:g.16248815G>C , CM000678.1:g.16248815G>C	GRCh37
NC_000016.8:g.16156316G>C	NCBI36
NG_007558.2:g.73514C>G
NG_007558.3:g.73660C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.819C>G
ENST00000622290.5:c.*128C>G	ENSP00000483331.2:n.*128C>G
ENST00000205557.12:c.3956C>G MANE Select	ENSP00000205557.7:p.Ala1319Gly
ENST00000640696.1:c.770C>G	ENSP00000492197.1:p.Ala257Gly
ENST00000205557.11:c.3956C>G	ENSP00000205557.7:p.Ala1319Gly
ENST00000456970.6:c.3581C>G	ENSP00000405002.2:n.3581C>G
ENST00000576204.5:n.819C>G
ENST00000622290.4:c.*1165C>G	ENSP00000483331.1:n.*1165C>G
NM_001171.5:c.3956C>G	NP_001162.4:p.Ala1319Gly
XM_011522479.1:c.3923C>G	XP_011520781.1:p.Ala1308Gly
XM_011522480.1:c.3614C>G	XP_011520782.1:p.Ala1205Gly
XM_011522481.1:c.3614C>G	XP_011520783.1:p.Ala1205Gly
XR_932836.1:n.4254C>G
XR_932837.1:n.3992C>G
XR_932838.1:n.4055C>G
XR_933134.1:n.539-4823G>C
NM_001351800.1:c.3614C>G	NP_001338729.1:p.Ala1205Gly
NR_147784.1:n.3618C>G
XM_011522479.2:c.3923C>G	XP_011520781.1:p.Ala1308Gly
XM_011522481.3:c.3614C>G	XP_011520783.1:p.Ala1205Gly
XM_017023212.1:c.3788C>G	XP_016878701.1:p.Ala1263Gly
XM_024450261.1:c.3992C>G	XP_024306029.1:p.Ala1331Gly
XR_932837.3:n.3937C>G
NM_001171.6:c.3956C>G MANE Select	NP_001162.5:p.Ala1319Gly