Canonical Allele Identifier: CA394884082

Gene: ABCC6

Linked Data

• dbSNP Id: rs1316994507
• gnomAD v2: 16-16244621-T-C
• gnomAD v4: 16-16150764-T-C
• MyVariant Identifiers: chr16:g.16244621T>C (hg19) ; chr16:g.16150764T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150764T>C , CM000678.2:g.16150764T>C	GRCh38
NC_000016.9:g.16244621T>C , CM000678.1:g.16244621T>C	GRCh37
NC_000016.8:g.16152122T>C	NCBI36
NG_007558.2:g.77708A>G
NG_007558.3:g.77854A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*389A>G	ENSP00000483331.2:n.*389A>G
ENST00000205557.12:c.4217A>G MANE Select	ENSP00000205557.7:p.Gln1406Arg
ENST00000640696.1:c.1031A>G	ENSP00000492197.1:p.Gln344Arg
ENST00000205557.11:c.4217A>G	ENSP00000205557.7:p.Gln1406Arg
ENST00000456970.6:c.3842A>G	ENSP00000405002.2:n.3842A>G
ENST00000576204.5:n.1080A>G
ENST00000622290.4:c.*1426A>G	ENSP00000483331.1:n.*1426A>G
NM_001171.5:c.4217A>G	NP_001162.4:p.Gln1406Arg
XM_011522479.1:c.4184A>G	XP_011520781.1:p.Gln1395Arg
XM_011522480.1:c.3875A>G	XP_011520782.1:p.Gln1292Arg
XM_011522481.1:c.3875A>G	XP_011520783.1:p.Gln1292Arg
XR_933134.1:n.538+6474T>C
NM_001351800.1:c.3875A>G	NP_001338729.1:p.Gln1292Arg
NR_147784.1:n.3879A>G
XM_011522479.2:c.4184A>G	XP_011520781.1:p.Gln1395Arg
XM_011522481.3:c.3875A>G	XP_011520783.1:p.Gln1292Arg
XM_017023212.1:c.4049A>G	XP_016878701.1:p.Gln1350Arg
XM_024450261.1:c.4253A>G	XP_024306029.1:p.Gln1418Arg
NM_001171.6:c.4217A>G MANE Select	NP_001162.5:p.Gln1406Arg