Canonical Allele Identifier: CA2631973375

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16203324-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16203324G>A , CM000678.2:g.16203324G>A	GRCh38
NC_000016.9:g.16297181G>A , CM000678.1:g.16297181G>A	GRCh37
NC_000016.8:g.16204682G>A	NCBI36
NG_007558.2:g.25148C>T
NG_007558.3:g.25294C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.998+86C>T	ENSP00000507301.1:n.998+86C>T
ENST00000622290.5:c.998+86C>T	ENSP00000483331.2:n.998+86C>T
ENST00000205557.12:c.998+86C>T MANE Select	ENSP00000205557.7:n.998+86C>T
ENST00000205557.11:c.998+86C>T	ENSP00000205557.7:n.998+86C>T
ENST00000456970.6:c.998+86C>T	ENSP00000405002.2:n.998+86C>T
ENST00000574094.5:n.1094+86C>T
ENST00000577103.1:c.*865+86C>T	ENSP00000459243.1:n.*865+86C>T
ENST00000622290.4:c.998+86C>T	ENSP00000483331.1:n.998+86C>T
NM_001171.5:c.998+86C>T	NP_001162.4:n.998+86C>T
XM_011522479.1:c.998+86C>T	XP_011520781.1:n.998+86C>T
XM_011522480.1:c.656+86C>T	XP_011520782.1:n.656+86C>T
XM_011522481.1:c.656+86C>T	XP_011520783.1:n.656+86C>T
XM_011522482.1:c.998+86C>T	XP_011520784.1:n.998+86C>T
XR_932836.1:n.1233+86C>T
XR_932837.1:n.1234+86C>T
XR_932838.1:n.1234+86C>T
NM_001351800.1:c.656+86C>T	NP_001338729.1:n.656+86C>T
NR_147784.1:n.1035+86C>T
XM_011522479.2:c.998+86C>T	XP_011520781.1:n.998+86C>T
XM_011522481.3:c.656+86C>T	XP_011520783.1:n.656+86C>T
XM_011522482.3:c.998+86C>T	XP_011520784.1:n.998+86C>T
XM_017023212.1:c.998+86C>T	XP_016878701.1:n.998+86C>T
XM_017023214.1:c.998+86C>T	XP_016878703.1:n.998+86C>T
XM_024450261.1:c.1034+86C>T	XP_024306029.1:n.1034+86C>T
XR_932836.2:n.1179+86C>T
XR_932837.3:n.1179+86C>T
XR_932838.3:n.1179+86C>T
NM_001171.6:c.998+86C>T MANE Select	NP_001162.5:n.998+86C>T