Canonical Allele Identifier: CA7926369

Gene: ABCC6

Linked Data

• dbSNP Id: rs748770237
• ExAC: 16:16291901 C / G
• gnomAD v2: 16-16291901-C-G
• gnomAD v4: 16-16198044-C-G
• MyVariant Identifiers: chr16:g.16291901C>G (hg19) ; chr16:g.16198044C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198044C>G , CM000678.2:g.16198044C>G	GRCh38
NC_000016.9:g.16291901C>G , CM000678.1:g.16291901C>G	GRCh37
NC_000016.8:g.16199402C>G	NCBI36
NG_007558.2:g.30428G>C
NG_007558.3:g.30574G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1315G>C	ENSP00000507301.1:p.Val439Leu
ENST00000622290.5:c.1315G>C	ENSP00000483331.2:p.Val439Leu
ENST00000205557.12:c.1315G>C MANE Select	ENSP00000205557.7:p.Val439Leu
ENST00000205557.11:c.1315G>C	ENSP00000205557.7:p.Val439Leu
ENST00000456970.6:c.1315G>C	ENSP00000405002.2:p.Val439Leu
ENST00000574094.5:n.1411G>C
ENST00000622290.4:c.1315G>C	ENSP00000483331.1:p.Val439Leu
NM_001171.5:c.1315G>C	NP_001162.4:p.Val439Leu
XM_011522479.1:c.1315G>C	XP_011520781.1:p.Val439Leu
XM_011522480.1:c.973G>C	XP_011520782.1:p.Val325Leu
XM_011522481.1:c.973G>C	XP_011520783.1:p.Val325Leu
XM_011522482.1:c.1315G>C	XP_011520784.1:p.Val439Leu
XR_932836.1:n.1550G>C
XR_932837.1:n.1551G>C
XR_932838.1:n.1551G>C
NM_001351800.1:c.973G>C	NP_001338729.1:p.Val325Leu
NR_147784.1:n.1352G>C
XM_011522479.2:c.1315G>C	XP_011520781.1:p.Val439Leu
XM_011522481.3:c.973G>C	XP_011520783.1:p.Val325Leu
XM_011522482.3:c.1315G>C	XP_011520784.1:p.Val439Leu
XM_017023212.1:c.1315G>C	XP_016878701.1:p.Val439Leu
XM_017023214.1:c.1315G>C	XP_016878703.1:p.Val439Leu
XM_024450261.1:c.1351G>C	XP_024306029.1:p.Val451Leu
XR_932836.2:n.1496G>C
XR_932837.3:n.1496G>C
XR_932838.3:n.1496G>C
NM_001171.6:c.1315G>C MANE Select	NP_001162.5:p.Val439Leu