Canonical Allele Identifier: CA394884023

Gene: ABCC6

Linked Data

• COSMIC: COSM3706879
• MyVariant Identifiers: chr16:g.16244603A>T (hg19) ; chr16:g.16150746A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150746A>T , CM000678.2:g.16150746A>T	GRCh38
NC_000016.9:g.16244603A>T , CM000678.1:g.16244603A>T	GRCh37
NC_000016.8:g.16152104A>T	NCBI36
NG_007558.2:g.77726T>A
NG_007558.3:g.77872T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*407T>A	ENSP00000483331.2:n.*407T>A
ENST00000205557.12:c.4235T>A MANE Select	ENSP00000205557.7:p.Leu1412Gln
ENST00000640696.1:c.1049T>A	ENSP00000492197.1:p.Leu350Gln
ENST00000205557.11:c.4235T>A	ENSP00000205557.7:p.Leu1412Gln
ENST00000456970.6:c.3860T>A	ENSP00000405002.2:n.3860T>A
ENST00000576204.5:n.1098T>A
ENST00000622290.4:c.*1444T>A	ENSP00000483331.1:n.*1444T>A
NM_001171.5:c.4235T>A	NP_001162.4:p.Leu1412Gln
XM_011522479.1:c.4202T>A	XP_011520781.1:p.Leu1401Gln
XM_011522480.1:c.3893T>A	XP_011520782.1:p.Leu1298Gln
XM_011522481.1:c.3893T>A	XP_011520783.1:p.Leu1298Gln
XR_933134.1:n.538+6456A>T
NM_001351800.1:c.3893T>A	NP_001338729.1:p.Leu1298Gln
NR_147784.1:n.3897T>A
XM_011522479.2:c.4202T>A	XP_011520781.1:p.Leu1401Gln
XM_011522481.3:c.3893T>A	XP_011520783.1:p.Leu1298Gln
XM_017023212.1:c.4067T>A	XP_016878701.1:p.Leu1356Gln
XM_024450261.1:c.4271T>A	XP_024306029.1:p.Leu1424Gln
NM_001171.6:c.4235T>A MANE Select	NP_001162.5:p.Leu1412Gln