Canonical Allele Identifier: CA394881656

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16257023C>G (hg19) ; chr16:g.16163166C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163166C>G , CM000678.2:g.16163166C>G	GRCh38
NC_000016.9:g.16257023C>G , CM000678.1:g.16257023C>G	GRCh37
NC_000016.8:g.16164524C>G	NCBI36
NG_007558.2:g.65306G>C
NG_007558.3:g.65452G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3333G>C	ENSP00000483331.2:p.Gln1111His
ENST00000205557.12:c.3333G>C MANE Select	ENSP00000205557.7:p.Gln1111His
ENST00000640696.1:c.321-1602G>C	ENSP00000492197.1:n.321-1602G>C
ENST00000205557.11:c.3333G>C	ENSP00000205557.7:p.Gln1111His
ENST00000456970.6:c.3132-1602G>C	ENSP00000405002.2:n.3132-1602G>C
ENST00000622290.4:c.*542G>C	ENSP00000483331.1:n.*542G>C
NM_001171.5:c.3333G>C	NP_001162.4:p.Gln1111His
XM_011522479.1:c.3300G>C	XP_011520781.1:p.Gln1100His
XM_011522480.1:c.2991G>C	XP_011520782.1:p.Gln997His
XM_011522481.1:c.2991G>C	XP_011520783.1:p.Gln997His
XR_932836.1:n.3568G>C
XR_932837.1:n.3543-1602G>C
XR_932838.1:n.3543-1602G>C
XR_933133.1:n.407+323C>G
XR_933134.1:n.754+323C>G
NM_001351800.1:c.2991G>C	NP_001338729.1:p.Gln997His
NR_147784.1:n.3169-1602G>C
XM_011522479.2:c.3300G>C	XP_011520781.1:p.Gln1100His
XM_011522481.3:c.2991G>C	XP_011520783.1:p.Gln997His
XM_017023212.1:c.3165G>C	XP_016878701.1:p.Gln1055His
XM_017023214.1:c.3307-1602G>C	XP_016878703.1:n.3307-1602G>C
XM_024450261.1:c.3369G>C	XP_024306029.1:p.Gln1123His
XR_932836.2:n.3514G>C
XR_932837.3:n.3488-1602G>C
XR_932838.3:n.3488-1602G>C
NM_001171.6:c.3333G>C MANE Select	NP_001162.5:p.Gln1111His